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Items: 97

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:
Chr11:84953891-102738968
GRCh38:
Chr11:85242847-102920097
LOC101929174, LOC102723838, LOC107080646, LOC111591509, LOC111982889, LOC112136093, LOC112136095, LOC112136096, LOC112136097, LOC114827859, LOC116225292, LOC116225293, LOC116225294, LOC116225295, LOC116225296, LOC116225297, LOC116225298, LOC116225299, LOC116225300, LOC116225301, LOC121392933, LOC121392934, LOC121392935, LOC121392936, LOC121832818, LOC121832819, LOC124500703, LOC124500704, LOC124500705, LOC124500706, LOC124500707, LOC124500708, LOC124500709, LOC124500710, LOC124500711, LOC124544574, LOC124544575, LOC124544577, LOC124544578, LOC124544579, LOC124544580, LOC124544581, LOC124544582, LOC124544583, LOC124625821, LOC124625822, LOC124625823, LOC124625824, LOC124625825, LOC124625826, LOC124625827, LOC124625828, LOC126861282, LOC126861283, LOC126861284, LOC126861285, LOC126861286, LOC126861287, LOC126861288, LOC126861289, LOC126861290, LOC126861291, LOC126861292, LOC126861293, LOC126861294, LOC126861295, LOC126861296, LOC126861297, LOC126861298, LOC126861299, LOC126861300, LOC126861301, LOC126861302, LOC126861303, LOC126861304, LOC126861305, LOC126861306, LOC126861307, LOC126861308, LOC126861309, LOC126861310, LOC126861311, LOC126861312, LOC126861313, LOC126861314, LOC126861315, LOC126861316, LOC126861317, LOC129390318, LOC129390319, LOC129390320, LOC129390321, LOC129390322, LOC129390323, LOC129390324, LOC129390325, LOC129390326, LOC129390327, LOC129390328, LOC129390329, LOC129390330, LOC129390331, LOC129390332, LOC129390333, LOC129390334, LOC129390335, LOC129390336, LOC129390337, LOC129390338, LOC129390339, LOC129390340, LOC129390341, LOC129390342, LOC129390343, LOC129390344, LOC129390345, LOC129390346, LOC129390347, LOC130006545, LOC130006546, LOC130006547, LOC130006548, LOC130006549, LOC130006550, LOC130006551, LOC130006552, LOC130006553, LOC130006554, LOC130006555, LOC130006556, LOC130006557, LOC130006558, LOC130006559, LOC130006560, LOC130006561, LOC130006562, LOC130006563, LOC130006564, LOC130006565, LOC130006566, LOC130006567, LOC130006568, LOC130006569, LOC130006570, LOC130006571, LOC130006572, LOC130006573, LOC130006574, LOC130006575, LOC130006576, LOC130006577, LOC130006578, LOC130006579, LOC130006580, LOC130006581, LOC130006582, LOC130006583, LOC130006584, LOC130006585, LOC130006586, LOC130006587, LOC130006588, LOC130006589, LOC130006590, LOC130006591, LOC130006592, LOC130006593, LOC130006594, LOC130006595, LOC130006596, LOC130006597, LOC130006598, LOC130006599, LOC130006600, LOC130006601, LOC130006602, LOC130006603, LOC130006604, LOC130006605, LOC130006606, LOC130006607, LOC130006608, LOC130006609, LOC130006610, LOC130006611, LOC130006612, LOC130006613, LOC130006614, LOC130006615, LOC130006616, LOC130006617, LOC130006618, LOC130006619, LOC130006620, LOC130006621, LOC130006622, LOC130006623, LOC130006624, LOC130006625, LOC130006626, LOC130006627, LOC130006628, LOC130006629, LOC130006630, LOC130006631, LOC130006632, LOC130006633, LOC130006634, LOC130006635, LOC130006636, LOC130006637, LOC130006638, LOC130006639, LOC130006640, LOC130006641, LOC130006642, LOC130006643, LOC130006644, LOC130006645, LOC130006646, LOC130006647, LOC130006648, LOC130006649, LOC130006650, LOC130006651, LOC130006652, LOC130006653, LOC130006654, LOC130006655, LOC130006656, LOC130006657, LOC130006658, LOC130006659, LOC132089885, LOC132089886, LOC132089887, LOC132089888, LOC132089889, LOC132089890, LOC132089891, LOC132089892, LOC132089943, LOC132089944, LOC132089945, LOC132089946, LOC132089947, LOC132089948, LOC132089949, LOC132089950, LOC132089951, LOC132089952, LOC132089953, LOC132089954, LOC132089955, LOC132089956, LOC132090839, LOC132090840, MAML2, ME3, ME3-DT, MED17, MIR1260B, MIR1261, MIR1304, MIR3166, MIR3920, MIR4490, MIR548L, MIR6755, MMP1, MMP10, MMP12, MMP20, MMP20-AS1, MMP27, MMP3, MMP7, MMP8, MRE11, MTMR2, MTNR1B, NAALAD2, NOX4, PANX1, PGR, PGR-AS1, PICALM, PIWIL4, PIWIL4-AS1, PRSS23, PRSS23-AS1, RAB38, SCARNA9, SESN3, SLC36A4, SMCO4, SNORA1, SNORA18, SNORA25, SNORA32, SNORA40, SNORA8, SNORD13I, SNORD5, SNORD6, SRSF8, SYTL2, TAF1D, TMEM123, TMEM123-DT, TMEM126A, TMEM126B, TMEM133, TMEM135, TRIM49, TRIM49C, TRIM49D1, TRIM49D2, TRIM64, TRIM64B, TRIM77, TRPC6, TYR, UBTFL1, VSTM5, YAP1, AMOTL1, ANGPTL5, ANKRD49, ARHGAP42, ARHGAP42-AS1, BIRC2, BIRC3, C11orf54, C11orf97, CCDC81, CCDC82, CCDC83, CCDC89, CEP126, CEP295, CEP57, CFAP300, CHORDC1, CNTN5, CREBZF, CTSC, CWC15, DEUP1, DISC1FP1, DLG2, EED, ENDOD1, FAM76B, FAT3, FOLH1B, FUT4, FZD4, FZD4-DT, GPR83, GRM5, GRM5-AS1, HEPHL1, HIKESHI, IZUMO1R, JRKL, JRKL-AS1, KDM4D, KDM4E, KDM4F, LINC02553, LINC02700, LINC02711, LINC02713, LINC02737, LINC02746, LINC02748, LINC02756, LNCRNA-IUR, LOC100129203
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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
4.
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
5.
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
6.
GRCh37:
Chr11:101323715-103914833
GRCh38:
Chr11:101452984-104044105
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
7.
GRCh37:
Chr11:102660874
GRCh38:
Chr11:102790143
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr11:102660959
GRCh38:
Chr11:102790228
MMP1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr11:102661080
GRCh38:
Chr11:102790349
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr11:102661099
GRCh38:
Chr11:102790368
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr11:102661152
GRCh38:
Chr11:102790421
MMP1R401S, R467SInborn genetic diseasesUncertain significance
(Dec 16, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr11:102661164
GRCh38:
Chr11:102790433
MMP1W397*, W463*not specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:102661276
GRCh38:
Chr11:102790545
MMP1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr11:102661435
GRCh38:
Chr11:102790704
MMP1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr11:102661518
GRCh38:
Chr11:102790787
MMP1S340T, S406Tnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr11:102661595
GRCh38:
Chr11:102790864
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr11:102661665
GRCh38:
Chr11:102790934
MMP1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr11:102661757
GRCh38:
Chr11:102791026
MMP1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr11:102661813
GRCh38:
Chr11:102791082
MMP1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr11:102662088
GRCh38:
Chr11:102791357
MMP1F391C, F325CInborn genetic diseasesUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:102662131
GRCh38:
Chr11:102791400
MMP1I311V, I377VInborn genetic diseasesUncertain significance
(Jun 1, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr11:102662140
GRCh38:
Chr11:102791409
MMP1V374M, V308Mnot providedBenign
(May 8, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr11:102662223
GRCh38:
Chr11:102791492
MMP1N280T, N346TInborn genetic diseasesUncertain significance
(Feb 22, 2023)
criteria provided, single submitter
24.
GRCh37:
Chr11:102662466
GRCh38:
Chr11:102791735
MMP1not providedBenign
(Jun 20, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr11:102663363
GRCh38:
Chr11:102792632
MMP1D270N, D336NInborn genetic diseasesUncertain significance
(Mar 24, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr11:102663372
GRCh38:
Chr11:102792641
MMP1E333K, E267KInborn genetic diseasesUncertain significance
(Aug 4, 2023)
criteria provided, single submitter
27.
GRCh37:
Chr11:102663373
GRCh38:
Chr11:102792642
MMP1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr11:102663381
GRCh38:
Chr11:102792650
MMP1A264fs, A330fsInterstitial lung disease 2Uncertain significance
(May 6, 2018)
no assertion criteria provided
29.
GRCh37:
Chr11:102663456
GRCh38:
Chr11:102792725
MMP1T305A, T239AInborn genetic diseasesUncertain significance
(Oct 18, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr11:102663459
GRCh38:
Chr11:102792728
MMP1R304S, R238SInborn genetic diseasesUncertain significance
(Aug 8, 2023)
criteria provided, single submitter
31.
GRCh37:
Chr11:102663476-102663477
GRCh38:
Chr11:102792745-102792746
MMP1not specifiedBenign
(Mar 28, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr11:102663482
GRCh38:
Chr11:102792751
MMP1not specifiedBenign
(Mar 28, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr11:102663503
GRCh38:
Chr11:102792772
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr11:102663708
GRCh38:
Chr11:102792977
MMP1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr11:102665669
GRCh38:
Chr11:102794938
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr11:102665684
GRCh38:
Chr11:102794953
MMP1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr11:102665939
GRCh38:
Chr11:102795208
MMP1T289A, T223AInborn genetic diseasesUncertain significance
(Jun 27, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr11:102665973
GRCh38:
Chr11:102795242
MMP1not specifiedBenign
(Mar 28, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr11:102665974
GRCh38:
Chr11:102795243
MMP1A277V, A211VInborn genetic diseasesLikely benign
(Jun 30, 2023)
criteria provided, single submitter
40.
GRCh37:
Chr11:102666037
GRCh38:
Chr11:102795306
MMP1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr11:102666043
GRCh38:
Chr11:102795312
MMP1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr11:102666164
GRCh38:
Chr11:102795433
MMP1not providedBenign
(Jun 20, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr11:102666257
GRCh38:
Chr11:102795526
MMP1M236T, M170TInborn genetic diseasesUncertain significance
(Aug 4, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr11:102666257
GRCh38:
Chr11:102795526
MMP1M170K, M236KInborn genetic diseasesUncertain significance
(Mar 2, 2023)
criteria provided, single submitter
45.
GRCh37:
Chr11:102666282
GRCh38:
Chr11:102795551
MMP1H162N, H228NInborn genetic diseasesUncertain significance
(Jun 28, 2023)
criteria provided, single submitter
46.
GRCh37:
Chr11:102666284
GRCh38:
Chr11:102795553
MMP1S227F, S161FInborn genetic diseasesUncertain significance
(Sep 14, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:102666303
GRCh38:
Chr11:102795572
MMP1G155S, G221SInborn genetic diseasesUncertain significance
(Dec 13, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr11:102666316
GRCh38:
Chr11:102795585
MMP1not provided, not specifiedBenign
(Nov 12, 2018)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr11:102666557
GRCh38:
Chr11:102795826
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr11:102666655
GRCh38:
Chr11:102795924
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr11:102667063
GRCh38:
Chr11:102796332
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr11:102667409
GRCh38:
Chr11:102796678
MMP1T204I, T138IInborn genetic diseasesUncertain significance
(Jan 4, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr11:102667447
GRCh38:
Chr11:102796716
MMP1I125fs, I191fsnot providedBenign
(Jan 1, 2023)
criteria provided, single submitter
54.
GRCh37:
Chr11:102667449
GRCh38:
Chr11:102796718
MMP1I125V, I191Vnot providedLikely benign
(May 18, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr11:102667859
GRCh38:
Chr11:102797128
MMP1D129Y, D63YInborn genetic diseasesUncertain significance
(Jan 11, 2023)
criteria provided, single submitter
56.
GRCh37:
Chr11:102667879
GRCh38:
Chr11:102797148
MMP1T122M, T56Mnot providedLikely benign
(Aug 15, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr11:102667983
GRCh38:
Chr11:102797252
MMP1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
58.
GRCh37:
Chr11:102668022
GRCh38:
Chr11:102797291
MMP1not provided, not specifiedBenign
(Nov 12, 2018)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:102668029
GRCh38:
Chr11:102797298
MMP1T37I, T103IInborn genetic diseasesUncertain significance
(Sep 12, 2023)
criteria provided, single submitter
60.
GRCh37:
Chr11:102668089
GRCh38:
Chr11:102797358
MMP1T83N, T17Nnot provided, Recessive dystrophic epidermolysis bullosa, COPD, severe early onset
Likely benign
(Jul 23, 2021)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr11:102668111
GRCh38:
Chr11:102797380
MMP1T76P, T10PInborn genetic diseasesUncertain significance
(Aug 17, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr11:102668141
GRCh38:
Chr11:102797410
MMP1Q66EInborn genetic diseasesUncertain significance
(Aug 21, 2023)
criteria provided, single submitter
63.
GRCh37:
Chr11:102668159
GRCh38:
Chr11:102797428
MMP1V60LInborn genetic diseasesUncertain significance
(Dec 21, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr11:102668604-102668605
GRCh38:
Chr11:102797873-102797874
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr11:102668604
GRCh38:
Chr11:102797873
MMP1not provided, Preterm premature rupture of membranesBenign
(Jun 19, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr11:102668686
GRCh38:
Chr11:102797955
MMP1not providedBenign
(Jun 21, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr11:102668687
GRCh38:
Chr11:102797956
MMP1not providedBenign
(Jun 21, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr11:102668702
GRCh38:
Chr11:102797971
MMP1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr11:102668732
GRCh38:
Chr11:102798001
MMP1V31GInborn genetic diseasesUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr11:102668759
GRCh38:
Chr11:102798028
MMP1A22VInborn genetic diseasesLikely benign
(May 24, 2023)
criteria provided, single submitter
71.
GRCh37:
Chr11:102668791
GRCh38:
Chr11:102798060
MMP1not providedLikely benign
(Aug 15, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr11:102668882
GRCh38:
Chr11:102798151
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr11:102669210
GRCh38:
Chr11:102798479
MMP1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr11:102669230
GRCh38:
Chr11:102798499
MMP1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr11:102669409
GRCh38:
Chr11:102798678
MMP1not providedBenign
(Sep 22, 2020)
criteria provided, single submitter
76.
GRCh37:
Chr11:102670496
GRCh38:
Chr11:102799765
MMP1Pulmonary disease, chronic obstructive, rate of decline of lung function inPathogenic
(Feb 1, 2008)
no assertion criteria provided
77.
GRCh37:
Chr11:101374735-103349981
not providedUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr11:81478509-104667040
not providedPathogenic
(Oct 19, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr11:99059204-103281943
not providedUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:98770072-104602846
not providedLikely pathogenic
(Nov 8, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr11:101371503-109306519
not providedPathogenic
(Jun 3, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr11:32799481-134938470
GRIA4, GRIK4, GRK2, GRM5, GSTP1, GUCY1A2, H2AX, HARBI1, HEPACAM, HEPHL1, HEPN1, HIKESHI, HINFP, HIPK3, HMBS, HNRNPUL2, HOATZ, HSD17B12, HSPA8, HSPB2, HTR3A, HTR3B, HYLS1, HYOU1, IFT46, IFTAP, IGHMBP2, IGSF9B, IL10RA, IL18, IL18BP, INCENP, INPPL1, INTS4, INTS5, IZUMO1R, JAM3, JAML, JHY, JRKL, KAT5, KBTBD3, KBTBD4, KCNE3, KCNJ1, KCNJ5, KCNJ5-AS1, KCNK4, KCNK7, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIRREL3, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDLRAD3, LGALS12, LINC00294, LINC02714, LINC02743, LINC02873, LIPT2, LMO2, LOC100128088, LOC100132686, LOC101929473, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRN4CL, LRTOMT, LTBP3, LTO1, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MCAM, MDK, ME3, MED17, MED19, MEN1, MFRP, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR326, MIR34B, MIR34BHG, MIR34C, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MOGAT2, MPEG1, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRF, MRPL11, MRPL16, MRPL21, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD2, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MUS81, MYBPC3, MYEOV, MYO7A, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NARS2, NAT10, NCAM1, NCAPD3, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NECTIN1, NEU3, NFRKB, NHERF4, NKAPD1, NLRX1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRGN, NRXN2, NTM, NUDT22, NUDT8, NUMA1, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OAF, OMP, OOSP2, OPCML, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AT4, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D5, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR6M1, OR6Q1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OTUB1, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PANX3, PATE1, PATE2, PATE3, PATE4, PATL1, PC, PCF11, PCNX3, PCSK7, PDE2A, PDGFD, PDHX, PELI3, PEX16, PGA3, PGA4, PGA5, PGM2L1, PGR, PHF21A, PHLDB1, PHOX2A, PICALM, PIH1D2, PITPNM1, PIWIL4, PKNOX2, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHB1, PLET1, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPFIA1, PPME1, PPP1CA, PPP1R14B, PPP1R32, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRPF19, PRR5L, PRRG4, PRSS23, PSMC3, PTGDR2, PTPMT1, PTPRCAP, PTPRJ, PTS, PUS3, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RCE1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RIN1, RNASEH2C, RNF121, RNF169, RNF214, RNF26, ROBO3, ROBO4, ROM1, RPS25, RPS3, RPS6KA4, RPS6KB2, RPUSD4, RSF1, RTN3, RTN4RL2, SAC3D1, SART1, SC5D, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN3B, SCN4B, SCYL1, SESN3, SDHAF2, SDHD, SELENOH, SERPING1, SERPINH1, SF1, SF3B2, SHANK2, SIAE, SIDT2, SIK2, SIK3, SIPA1, SLC15A3, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC37A2, SLC37A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLCO2B1, SLN, SMCO4, SMTNL1, SNHG1, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX19, SNX32, SORL1, SPA17, SPATA19, SPCS2, SPDYC, SPI1, SPINDOC, SPTBN2, SRPRA, SRSF8, SSH3, SSRP1, ST14, ST3GAL4, STARD10, STIP1, STT3A, STX3, STX5, SYT12, SYT13, SYT7, AAMDC, AASDHPPT, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, AGBL2, AHNAK, AIP, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, AP5B1, API5, APIP, APLNR, APLP2, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARAP1-AS2, ARCN1, ARFGAP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARHGEF17-AS1, ARL2, ARRB1, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT1, B3GAT3, B3GNT6, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BARX2, BATF2, BBS1, BCL9L, BCO2, BEST1, BIRC2, BIRC3, BLID, BRMS1, BSCL2, BSX, BTBD18, BTG4, BUD13, C11orf24, C11orf52, C11orf54, C11orf65, C11orf68, C11orf71, C11orf80, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C1QTNF5, C2CD2L, C2CD3, CABP2, CABP4, CADM1, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CBL, CBLIF, CCDC15, CCDC153, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCND1, CCS, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD82, CDC42BPG, CDC42EP2, CDCA5, CDK2AP2, CDON, CELF1, CENATAC, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHEK1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHST1, CKAP5, CLCF1, CLDN25, CLMP, CLNS1A, CLP1, CLPB, CNIH2, CNTF, CNTN5, COA4, COMMD9, CORO1B, COX8A, CPSF7, CPT1A, CREB3L1, CREBZF, CRTAM, CRY2, CRYAB, CSKMT, CST6, CSTF3, CSTPP1, CTNND1, CTSC, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CXCR5, CYB561A3, DAGLA, DCPS, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DDX25, DDX6, DEFB108B, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DLAT, DLG2, DNAJB13, DNAJC4, DPAGT1, DPF2, DPP3, DRAP1, DRD2, DSCAML1, DTX4, DYNC2H1, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF1AD, ELF5, ELMOD1, EML3, EMSY, ENDOD1, ESAM, ESRRA, ETS1, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM118B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FEZ1, FGF19, FGF3, FGF4, FIBP, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FOXR1, FOXRED1, FREY1, FRMD8, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GANAB, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRAMD1B, SYTL2, SYVN1, TAF1D, TAF6L, TAGLN, TBC1D10C, TBCEL, TBRG1, TBX10, TCIRG1, TCN1, TCP11L1, TECTA, TENM4, TESMIN, TEX12, THAP12, THRSP, THY1, THYN1, TIGD3, TIMM10, TIMM8B, TIRAP, TKFC, TLCD5, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM218, TMEM223, TMEM225, TMEM25, TMEM258, TMEM45B, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TP53AIP1, TP53I11, TPBGL, TPCN2, TRAF6, TRAPPC4, TREH, TRIM29, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM51, TRIM64, TRIM64B, TRIM64C, TRIM77, TRMT112, TRPC6, TRPT1, TSGA10IP, TSKU, TSPAN18, TTC12, TTC17, TTC36, TTC9C, TUT1, TYR, UBASH3B, UBE2L6, UBE4A, UBTFL1, UBXN1, UCP2, UCP3, UNC93B1, UPK2, UQCC3, USP2, USP28, USP35, UVRAG, VEGFB, VPS11, VPS26B, VPS37C, VPS51, VSIG2, VSTM5, VWA5A, VWCE, WDR74, WNT11, XRRA1, YAP1, YIF1A, YPEL4, ZBTB16, ZBTB3, ZBTB44, ZC3H12C, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF202, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10
MISSED ABORTIONPathogenicno assertion criteria provided
83.
GRCh37:
Chr11:102308740-102676879
LOC100128088, MMP1, MMP10, MMP20, MMP27, MMP7, MMP8, TMEM123not specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr11:101323686-103349981
not providedPathogenic
(Oct 6, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr11:85422071-118022671
not providedUncertain significance
(Mar 1, 2021)
no assertion criteria provided
86.
GRCh37:
Chr11:94153285-111965700
Ataxia-telangiectasia syndromePathogenic
(Jan 16, 2020)
criteria provided, single submitter
87.
GRCh37:
Chr11:11835569-118373112
APOA1, APOA4, CAPRIN1, CARD16, CNIH2, CNTF, APOA5, APOC3, CARD17, CNTN5, COA4, F2, FADD, HOATZ, MAP6, MAPK8IP1, MARK2, NAALADL1, NADSYN1, NARS2, OR5AS1, PGA4, RASSF10, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RCE1, RCN1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RIN1, RNASEH2C, RNF121, RNF169, RNF214, ROM1, PGA5, PLAAT2, PGM2L1, PGR, PHF21A, PHOX2A, PICALM, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, OR5B12, OR5B17, OR5B2, OR5B3, OR5D16, OR5D18, OR5B21, OR5D13, OR5D14, OR5F1, OR5I1, OR5J2, NAT10, NAV2, NDUFV1, NDUFV1-DT, NDUFS3, NEAT1, NELL1, NCAM1, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS8, MIR34B, MIR610, MMP1, MMP10, MED17, MED19, MIR34BHG, MIR34C, MDK, ME3, MIR192, MIR194-2, MIR326, HTATIP2, HTR3A, HTR3B, IL18BP, IMMP1L, IFTAP, IGHMBP2, IGSF22, IL10RA, IL18, INCENP, INPPL1, INSC, HPS5, HSD17B12, HSPB2, FAM86C1P, FAM89B, FANCF, FAR1, FCHSD2, FAT3, FAU, FBXO3, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM168A, FAM180B, FAM181B, FAM76B, CRY2, CRYAB, CSKMT, CSRP3, COX8A, CREB3L1, CREBZF, COPB1, COMMD9, CORO1B, CPSF7, CPT1A, CATSPER1, CARNS1, CASP12, CASP4, CARD18, CATSPERZ, CASP1, CASP5, CAT, ARFGAP2, ARHGAP1, ARAP1, ARAP1-AS2, ARHGEF17-AS1, ARL14EP, AQP11, ARL2, ARHGAP20, ARHGAP42, ARHGEF17, ASRGL1, ATG13, ARRB1, AAMDC, AASDHPPT, ABCC8, ABTB2, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACTN3, ACY3, AGBL2, AHNAK, AIP, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, AP5B1, API5, APIP, APLNR, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT3, B3GNT6, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BATF2, BBOX1, BBS1, BCO2, BDNF, BDNF-AS, BEST1, BIRC2, BIRC3, BMAL1, BRMS1, BSCL2, BTBD10, BTBD18, BTG4, BUD13, C11orf24, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CBLIF, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCND1, CCS, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD82, CDC42BPG, CDC42EP2, CDCA5, CDK2AP2, CELF1, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHST1, CKAP5, CLCF1, CLDN25, CLNS1A, CLP1, CLPB, CST6, CSTF3, CSTPP1, CTNND1, CTSC, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CYB561A3, CYP2R1, DAGLA, DBX1, DCDC1, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DEFB108B, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DPF2, DPP3, DRAP1, DRD2, DSCAML1, DTX4, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EIF1AD, EIF3M, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, ESRRA, EXPH5, EXT2, FDX1, FDXACB1, FEN1, FERMT3, FGF19, FGF3, FGF4, FIBIN, FIBP, FJX1, FKBP2, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GANAB, GAS2, GDPD4, GDPD5, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRIA4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, HARBI1, HEPHL1, HIKESHI, HIPK3, HNRNPUL2, INTS4, INTS5, IZUMO1R, JAML, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ11, KCNK4, KCNK7, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIF18A, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LIPT2, LMO2, LOC100132686, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRN4CL, LRTOMT, LTBP3, LTO1, LUZP2, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MEN1, METTL15, MICAL2, MICALCL, MIR130A, MIR139, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRF, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL21, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MUC15, MUS81, NAALAD2, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NEU3, NKAPD1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRXN2, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OMP, OOSP2, OR10AG1, OR10Q1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AT4, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR6Q1, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OTOG, OTUB1, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PARVA, PATL1, PAX6, PC, PCF11, PCNX3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHA7, PLEKHB1, PLET1, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POU2AF1, POU2AF2, POU2AF3, PPFIA1, PPME1, PPP1CA, PPP1R14B, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM11, PRDX5, PRG2, PRG3, PRMT3, PRPF19, PRR5L, PRRG4, PRSS23, PSMA1, PSMC3, PTGDR2, PTH, PTPMT1, PTPN5, PTPRCAP, PTPRJ, PTS, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RPS13, RPS3, RPS6KA4, RPS6KB2, RRAS2, RSF1, RTN3, RTN4RL2, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SAC3D1, SART1, SAXO4, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN4B, SCYL1, SDHAF2, SDHD, SELENOH, SERGEF, SERPING1, SERPINH1, SESN3, SF1, SF3B2, SHANK2, SIDT2, SIK2, SIK3, SIPA1, SLC15A3, SLC22A24, SLC17A6, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLC5A12, SLC6A5, SLCO2B1, SLN, SMCO4, SMTNL1, SNHG1, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX32, SOX6, SPCS2, SPDYC, SPI1, SPINDOC, SPON1, SPTBN2, SPTY2D1, SRSF8, SSH3, SSRP1, STARD10, STIP1, STX3, STX5, SVIP, SYT12, SYT13, SYT7, SYTL2, SYVN1, TAF1D, TAF6L, TAGLN, TBC1D10C, TBX10, TCIRG1, TCN1, TCP11L1, TEAD1, TENM4, TESMIN, TEX12, THAP12, THRSP, TIGD3, TIMM10, TIMM8B, TKFC, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM223, TMEM258, TMEM86A, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TOP6BL, TP53I11, TPBGL, TPCN2, TPH1, TRAF6, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM51, TRIM64, TRIM64B, TRIM64C, TRIM77, TRMT112, TRPC6, TRPT1, TSG101, TSGA10IP, TSKU, TSPAN18, TTC12, TTC17, TTC9C, TUT1, TYR, UBE2L6, UBE4A, UBTFL1, UBXN1, UCP2, UCP3, UEVLD, UNC93B1, UQCC3, USH1C, USP28, USP35, USP47, UVRAG, VEGFB, VPS37C, VPS51, VSTM5, VWCE, WDR74, WNT11, WT1, WT1-AS, XRRA1, YAP1, YIF1A, YPEL4, ZBTB16, ZBTB3, ZC3H12C, ZDHHC13, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10
Intellectual disabilityPathogenic
(Feb 25, 2021)
no assertion criteria provided
88.
GRCh37:
Chr11:70864-134938470