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Items: 1 to 100 of 5127

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:93949-37189567
GRCh38:
Chr3:52266-37148076
ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ARPP21, ARPP21-AS1, ATG7, ATP2B2, ATP2B2-IT1, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CCR4, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, CNOT10-AS1, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, CRTAP, DAZL, DCLK3, DPH3, DYNC1LI1, EAF1, EDEM1, EFHB, EGOT, EMC3, EMC3-AS1, EOMES, EPM2AIP1, FANCD2, FANCD2OS, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GHRL, GHRLOS, GLB1, GPD1L, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927467, LOC101927829, LOC101928135, LOC105376944, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC111365150, LOC111365223, LOC111429626, LOC111465009, LOC111501778, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC129389017, LOC129389018, LOC129389019, LOC129389020, LOC129389021, LOC129389022, LOC129389023, LOC129389024, LOC129389025, LOC129389026, LOC129389027, LOC129389028, LOC129389029, LOC129389030, LOC129389031, LOC129389032, LOC129389033, LOC129389034, LOC129389035, LOC129389036, LOC129389037, LOC129389038, LOC129389039, LOC129389040, LOC129389041, LOC129389042, LOC129389043, LOC129389044, LOC129389045, LOC129389046, LOC129389047, LOC129389048, LOC129389049, LOC129389050, LOC129389051, LOC129389052, LOC129389053, LOC129389054, LOC129389055, LOC129929021, LOC129929022, LOC129929023, LOC129929024, LOC129929025, LOC129929026, LOC129936035, LOC129936036, LOC129936037, LOC129936038, LOC129936039, LOC129936040, LOC129936041, LOC129936042, LOC129936043, LOC129936044, LOC129936045, LOC129936046, LOC129936047, LOC129936048, LOC129936049, LOC129936050, LOC129936051, LOC129936052, LOC129936053, LOC129936054, LOC129936055, LOC129936056, LOC129936057, LOC129936058, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, LOC129936064, LOC129936065, LOC129936066, LOC129936067, LOC129936068, LOC129936069, LOC129936070, LOC129936071, LOC129936072, LOC129936073, LOC129936074, LOC129936075, LOC129936076, LOC129936077, LOC129936078, LOC129936079, LOC129936080, LOC129936081, LOC129936082, LOC129936083, LOC129936084, LOC129936085, LOC129936086, LOC129936087, LOC129936088, LOC129936089, LOC129936090, LOC129936091, LOC129936092, LOC129936093, LOC129936094, LOC129936095, LOC129936096, LOC129936097, LOC129936098, LOC129936099, LOC129936100, LOC129936101, LOC129936102, LOC129936103, LOC129936104, LOC129936105, LOC129936106, LOC129936107, LOC129936108, LOC129936109, LOC129936110, LOC129936111, LOC129936112, LOC129936113, LOC129936114, LOC129936115, LOC129936116, LOC129936117, LOC129936118, LOC129936119, LOC129936120, LOC129936121, LOC129936122, LOC129936123, LOC129936124, LOC129936125, LOC129936126, LOC129936127, LOC129936128, LOC129936129, LOC129936130, LOC129936131, LOC129936132, LOC129936133, LOC129936134, LOC129936135, LOC129936136, LOC129936137, LOC129936138, LOC129936139, LOC129936140, LOC129936141, LOC129936142, LOC129936143, LOC129936144, LOC129936145, LOC129936146, LOC129936147, LOC129936148, LOC129936149, LOC129936150, LOC129936151, LOC129936152, LOC129936153, LOC129936154, LOC129936155, LOC129936156, LOC129936157, LOC129936158, LOC129936159, LOC129936160, LOC129936161, LOC129936162, LOC129936163, LOC129936164, LOC129936165, LOC129936166, LOC129936167, LOC129936168, LOC129936169, LOC129936170, LOC129936171, LOC129936172, LOC129936173, LOC129936174, LOC129936175, LOC129936176, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, LOC129936184, LOC129936185, LOC129936186, LOC129936187, LOC129936188, LOC129936189, LOC129936190, LOC129936191, LOC129936192, LOC129936193, LOC129936194, LOC129936195, LOC129936196, LOC129936197, LOC129936198, LOC129936199, LOC129936200, LOC129936201, LOC129936202, LOC129936203, LOC129936204, LOC129936205, LOC129936206, LOC129936207, LOC129936208, LOC129936209, LOC129936210, LOC129936211, LOC129936212, LOC129936213, LOC129936214, LOC129936215, LOC129936216, LOC129936217, LOC129936218, LOC129936219, LOC129936220, LOC129936221, LOC129936222, LOC129936223, LOC129936224, LOC129936225, LOC129936226, LOC129936227, LOC129936228, LOC129936229, LOC129936230, LOC129936231, LOC129936232, LOC129936233, LOC129936234, LOC129936235, LOC129936236, LOC129936237, LOC129936238, LOC129936239, LOC129936240, LOC129936241, LOC129936242, LOC129936243, LOC129936244, LOC129936245, LOC129936246, LOC129936247, LOC129936248, LOC129936249, LOC129936250, LOC129936251, LOC129936252, LOC129936253, LOC129936254, LOC129936255, LOC129936256, LOC129936257, LOC129936258, LOC129936259, LOC129936260, LOC129936261, LOC129936262, LOC129936263, LOC129936264, LOC129936265, LOC129936266, LOC129936267, LOC129936268, LOC129936269, LOC129936270, LOC129936271, LOC129936272, LOC129936273, LOC129936274, LOC129936275, LOC129936276, LOC129936277, LOC129936278, LOC129936279, LOC129936280, LOC129936281, LOC129936282, LOC129936283, LOC129936284, LOC129936285, LOC129936286, LOC129936287, LOC129936288, LOC129936289, LOC129936290, LOC129936291, LOC129936292, LOC129936293, LOC129936294, LOC129936295, LOC129936296, LOC129936297, LOC129936298, LOC129936299, LOC129936300, LOC129936301, LOC129936302, LOC129936303, LOC129936304, LOC129936305, LOC129936306, LOC129936307, LOC129936308, LOC129936309, LOC129936310, LOC129936311, LOC129936312, LOC129936313, LOC129936314, LOC129936315, LOC129936316, LOC129936317, LOC129936318, LOC129936319, LOC129936320, LOC129936321, LOC129936322, LOC129936323, LOC129936324, LOC129936325, LOC129936326, LOC129936327, LOC129936328, LOC129936329, LOC129936330, LOC129936331, LOC129936332, LOC129936333, LOC129936334, LOC129936335, LOC129936336, LOC129936337, LOC129936338, LOC129936339, LOC129936340, LOC129936341, LOC129936342, LOC129936343, LOC129936344, LOC129936345, LOC129936346, LOC129936347, LOC129936348, LOC129936349, LOC129936350, LOC129936351, LOC129936352, LOC129936353, LOC129936354, LOC129936355, LOC129936356, LOC129936357, LOC129936358, LOC129936359, LOC129936360, LOC129936361, LOC129936362, LOC129936363, LOC129936364, LOC129936365, LOC129936366, LOC129936367, LOC129936368, LOC129936369, LOC129936370, LOC129936371, LOC129936372, LOC129936373, LOC129936374, LOC129936375, LOC129936376, LOC129936377, LOC129936378, LOC129936379, LOC129936380, LOC129936381, LOC129936382, LOC129936383, LOC129936384, LOC129936385, LOC129936386, LOC129936387, LOC129936388, LOC129936389, LOC129936390, LOC129936391, LOC129936392, LOC129936393, LOC129936394, LOC129936395, LOC129936396, LOC129936397, LOC129936398, LOC129936399, LOC129936400, LOC129936401, LOC129936402, LOC129936403, LOC129936404, LOC129936405, LOC129936406, LOC129936407, LOC129936408, LOC129936409, LOC129936410, LOC129936411, LOC129936412, LOC129936413, LOC129936414, LOC129936415, LOC129936416, LOC129936417, LOC129936418, LOC129936419, LOC129936420, LOC129936421, LOC129936422, LOC129936423, LOC129936424, LOC129936425, LOC129936426, LOC129936427, LOC129936428, LOC129936429, LOC129936430, LOC129936431, LOC129936432, LOC129936433, LOC129936434, LOC129936435, LOC129936436, LOC129936437, LOC129936438, LOC129936439, LOC129936440, LOC129936441, LOC129936442, LOC129936443, LOC129936444, LOC129936445, LOC129936446, LOC129936447, LOC129936448, LOC129936449, LOC129936450, LOC129936451, LOC129936452, LOC129936453, LOC129936454, LOC129936455, LOC129936456, LOC129936457, LOC129936458, LOC129936459, LOC129936460, LOC129936461, LOC129936462, LOC129936463, LOC129936464, LOC129936465, LOC129936466, LOC129936467, LOC129936468, LOC129936469, LOC129936470, LOC129936471, LOC132088859, LOC132088867, LOC132088868, LOC132088871, LOC132088872, LOC132088880, LOC132088882, LOC132088918, LOC132088919, LOC132088920, LOC132088921, LOC132088922, LOC132088923, LOC132088924, LOC132088925, LOC132088926, LOC132088927, LOC132088928, LOC132088929, LOC132088930, LOC132088931, LOC132088932, LOC132088933, LOC132088934, LOC132088935, LOC132088936, LOC132088937, LOC132088938, LOC132088939, LOC132088940, LOC132088941, LOC132088942, LOC132088943, LOC132088944, LOC132088945, LOC132088946, LOC132088947, LOC132088948, LOC132088949, LOC132088950, LOC132088951, LOC132088952, LOC132088953, LOC132088954, LOC132088955, LOC132088956, LOC132088957, LOC132088958, LOC132088959, LOC132088960, LOC132088961, LOC132088962, LOC132088963, LOC132088964, LOC132088965, LOC132088977, LOC132088979, LOC132088980, LOC132090691, LOC132090692, LOC132090693, LOC132090694, LOC132090695, LOC132090696, LOC132205955, LOC401052, LRRC3B, LRRC3B-AS1, LRRFIP2, LRRN1, LSM3, METTL6, MIR12127, MIR128-2, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR466, MIR4790, MIR4791, MIR548AY, MIR563, MIR885, MKRN2, MKRN2OS, MLH1, MRPS25, MTMR14, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXTR, PDCD6IP, PDCD6IP-DT, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, RPUSD3, SATB1, SATB1-AS1, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, STAC, STT3B, SUMF1, SUSD5, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TRNT1, TSEN2, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, VGLL4, VHL, WNT7A, XPC, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF860
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr3:94991-41423012
GRCh38:
Chr3:53308-41381521
LOC129936377, LOC129936378, LOC129936379, LOC129936380, LOC129936381, LOC129936382, LOC129936383, LOC129936384, LOC129936385, LOC129936386, LOC129936387, LOC129936388, LOC129936389, LOC129936390, LOC129936391, LOC129936392, LOC129936393, LOC129936394, LOC129936395, LOC129936396, LOC129936397, LOC129936398, LOC129936399, LOC129936400, LOC129936401, LOC129936402, LOC129936403, LOC129936404, LOC129936405, LOC129936406, LOC129936407, LOC129936408, LOC129936409, LOC129936410, LOC129936411, LOC129936412, LOC129936413, LOC129936414, LOC129936415, LOC129936416, LOC129936417, LOC129936418, LOC129936419, LOC129936420, LOC129936421, LOC129936422, LOC129936423, LOC129936424, LOC129936425, LOC129936426, LOC129936427, LOC129936428, LOC129936429, LOC129936430, LOC129936431, LOC129936432, LOC129936433, LOC129936434, LOC129936435, LOC129936436, LOC129936437, LOC129936438, LOC129936439, LOC129936440, LOC129936441, LOC129936442, LOC129936443, LOC129936444, LOC129936445, LOC129936446, LOC129936447, LOC129936448, LOC129936449, LOC129936450, LOC129936451, LOC129936452, LOC129936453, LOC129936454, LOC129936455, LOC129936456, LOC129936457, LOC129936458, LOC129936459, LOC129936460, LOC129936461, LOC129936462, LOC129936463, LOC129936464, LOC129936465, LOC129936466, LOC129936467, LOC129936468, LOC129936469, LOC129936470, LOC129936471, LOC129936472, LOC129936473, LOC129936474, LOC129936475, LOC129936476, LOC129936477, LOC129936478, LOC129936479, LOC129936480, LOC129936481, LOC129936482, LOC129936483, LOC129936484, LOC129936485, LOC129936486, LOC129936487, LOC129936488, LOC129936489, LOC129936490, LOC129936491, LOC129936492, LOC129936493, LOC129936494, LOC129936495, LOC129936496, LOC129936497, LOC129936498, LOC129936499, LOC129936500, LOC129936501, LOC129936502, LOC129936503, LOC129936504, LOC129936505, LOC129936506, LOC129936507, LOC129936508, LOC129936509, LOC129936510, LOC129936511, LOC129936512, LOC129936513, LOC129936514, LOC129936515, LOC129936516, LOC129936517, LOC129936518, LOC129936519, LOC129936520, LOC129936521, LOC129936522, LOC129936523, LOC129936524, LOC129936525, LOC129936526, LOC129936527, LOC129936528, LOC129936529, LOC129936530, LOC129936531, LOC129936532, LOC129936533, LOC129936534, LOC129936535, LOC129936536, LOC132088859, LOC132088867, LOC132088868, LOC132088871, LOC132088872, LOC132088880, LOC132088882, LOC132088918, LOC132088919, LOC132088920, LOC132088921, LOC132088922, LOC132088923, LOC132088924, LOC132088925, LOC132088926, LOC132088927, LOC132088928, LOC132088929, LOC132088930, LOC132088931, LOC132088932, LOC132088933, LOC132088934, LOC132088935, LOC132088936, LOC132088937, LOC132088938, LOC132088939, LOC132088940, LOC132088941, LOC132088942, LOC132088943, LOC132088944, LOC132088945, LOC132088946, LOC132088947, LOC132088948, LOC132088949, LOC132088950, LOC132088951, LOC132088952, LOC132088953, LOC132088954, LOC132088955, LOC132088956, LOC132088957, LOC132088958, LOC132088959, LOC132088960, LOC132088961, LOC132088962, LOC132088963, LOC132088964, LOC132088965, LOC132088977, LOC132088979, LOC132088980, LOC132090691, LOC132090692, LOC132090693, LOC132090694, LOC132090695, LOC132090696, LOC132205955, LOC401052, LRRC3B, LRRC3B-AS1, LRRFIP2, LRRN1, LSM3, METTL6, MIR12127, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR466, MIR4790, MIR4791, MIR548AY, MIR563, MIR6822, MIR885, MKRN2, MKRN2OS, MLH1, MOBP, MRPS25, MTMR14, MYD88, MYRIP, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, OXTR, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL14, SCN10A, RPL15, RPL32, RPSA, RPUSD3, SATB1, SATB1-AS1, SCN11A, SCN5A, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC25A38, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA6, SNORA62, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, STAC, STT3B, SUMF1, SUSD5, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TRNT1, TSEN2, TTC21A, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, ULK4, VGLL4, VHL, VILL, WDR48, WNT7A, XIRP1, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF619, ZNF620, ZNF621, ZNF860, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC122889070, LOC122889071, LOC122889072, LOC122889073, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC126806650, LOC126806651, LOC126806652, LOC126806653, LOC126806654, LOC126806655, LOC126806656, LOC126806657, LOC126806658, LOC126806659, LOC129389017, LOC129389018, LOC129389019, LOC129389020, LOC129389021, LOC129389022, LOC129389023, LOC129389024, LOC129389025, LOC129389026, LOC129389027, LOC129389028, LOC129389029, LOC129389030, LOC129389031, LOC129389032, LOC129389033, LOC129389034, LOC129389035, LOC129389036, LOC129389037, LOC129389038, LOC129389039, LOC129389040, LOC129389041, LOC129389042, LOC129389043, LOC129389044, LOC129389045, LOC129389046, LOC129389047, LOC129389048, LOC129389049, LOC129389050, LOC129389051, LOC129389052, LOC129389053, LOC129389054, LOC129389055, LOC129389056, LOC129389057, LOC129389058, LOC129389059, LOC129389060, LOC129929021, LOC129929022, LOC129929023, LOC129929024, LOC129929025, LOC129929026, LOC129936035, LOC129936036, LOC129936037, LOC129936038, LOC129936039, LOC129936040, LOC129936041, LOC129936042, LOC129936043, LOC129936044, LOC129936045, LOC129936046, LOC129936047, LOC129936048, LOC129936049, LOC129936050, LOC129936051, LOC129936052, LOC129936053, LOC129936054, LOC129936055, LOC129936056, LOC129936057, LOC129936058, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, LOC129936064, LOC129936065, LOC129936066, LOC129936067, LOC129936068, LOC129936069, LOC129936070, LOC129936071, LOC129936072, LOC129936073, LOC129936074, LOC129936075, LOC129936076, LOC129936077, LOC129936078, LOC129936079, LOC129936080, LOC129936081, LOC129936082, LOC129936083, LOC129936084, LOC129936085, LOC129936086, LOC129936087, LOC129936088, LOC129936089, LOC129936090, LOC129936091, LOC129936092, LOC129936093, LOC129936094, LOC129936095, LOC129936096, LOC129936097, LOC129936098, LOC129936099, LOC129936100, LOC129936101, LOC129936102, LOC129936103, LOC129936104, LOC129936105, LOC129936106, LOC129936107, LOC129936108, LOC129936109, LOC129936110, LOC129936111, LOC129936112, LOC129936113, LOC129936114, LOC129936115, LOC129936116, LOC129936117, LOC129936118, LOC129936119, LOC129936120, LOC129936121, LOC129936122, LOC129936123, LOC129936124, LOC129936125, LOC129936126, LOC129936127, LOC129936128, LOC129936129, LOC129936130, LOC129936131, LOC129936132, LOC129936133, LOC129936134, LOC129936135, LOC129936136, LOC129936137, LOC129936138, LOC129936139, LOC129936140, LOC129936141, LOC129936142, LOC129936143, LOC129936144, LOC129936145, LOC129936146, LOC129936147, LOC129936148, LOC129936149, LOC129936150, LOC129936151, LOC129936152, LOC129936153, LOC129936154, LOC129936155, LOC129936156, LOC129936157, LOC129936158, LOC129936159, LOC129936160, LOC129936161, LOC129936162, LOC129936163, LOC129936164, LOC129936165, LOC129936166, LOC129936167, LOC129936168, LOC129936169, LOC129936170, LOC129936171, LOC129936172, LOC129936173, LOC129936174, LOC129936175, LOC129936176, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, LOC129936184, LOC129936185, LOC129936186, LOC129936187, LOC129936188, LOC129936189, LOC129936190, LOC129936191, LOC129936192, LOC129936193, LOC129936194, LOC129936195, LOC129936196, LOC129936197, LOC129936198, LOC129936199, LOC129936200, LOC129936201, LOC129936202, LOC129936203, LOC129936204, LOC129936205, LOC129936206, LOC129936207, LOC129936208, LOC129936209, LOC129936210, LOC129936211, LOC129936212, LOC129936213, LOC129936214, LOC129936215, LOC129936216, LOC129936217, LOC129936218, LOC129936219, LOC129936220, LOC129936221, LOC129936222, LOC129936223, LOC129936224, LOC129936225, LOC129936226, LOC129936227, LOC129936228, LOC129936229, LOC129936230, LOC129936231, LOC129936232, LOC129936233, LOC129936234, LOC129936235, LOC129936236, LOC129936237, LOC129936238, LOC129936239, LOC129936240, LOC129936241, LOC129936242, LOC129936243, LOC129936244, LOC129936245, LOC129936246, LOC129936247, LOC129936248, LOC129936249, LOC129936250, LOC129936251, LOC129936252, LOC129936253, LOC129936254, LOC129936255, LOC129936256, LOC129936257, LOC129936258, LOC129936259, LOC129936260, LOC129936261, LOC129936262, LOC129936263, LOC129936264, LOC129936265, LOC129936266, LOC129936267, LOC129936268, LOC129936269, LOC129936270, LOC129936271, LOC129936272, LOC129936273, LOC129936274, LOC129936275, LOC129936276, LOC129936277, LOC129936278, LOC129936279, LOC129936280, LOC129936281, LOC129936282, LOC129936283, LOC129936284, LOC129936285, LOC129936286, LOC129936287, LOC129936288, LOC129936289, LOC129936290, LOC129936291, LOC129936292, LOC129936293, LOC129936294, LOC129936295, LOC129936296, LOC129936297, LOC129936298, LOC129936299, LOC129936300, LOC129936301, LOC129936302, LOC129936303, LOC129936304, LOC129936305, LOC129936306, LOC129936307, LOC129936308, LOC129936309, LOC129936310, LOC129936311, LOC129936312, LOC129936313, LOC129936314, LOC129936315, LOC129936316, LOC129936317, LOC129936318, LOC129936319, LOC129936320, LOC129936321, LOC129936322, LOC129936323, LOC129936324, LOC129936325, LOC129936326, LOC129936327, LOC129936328, LOC129936329, LOC129936330, LOC129936331, LOC129936332, LOC129936333, LOC129936334, LOC129936335, LOC129936336, LOC129936337, LOC129936338, LOC129936339, LOC129936340, LOC129936341, LOC129936342, LOC129936343, LOC129936344, LOC129936345, LOC129936346, LOC129936347, LOC129936348, LOC129936349, LOC129936350, LOC129936351, LOC129936352, LOC129936353, LOC129936354, LOC129936355, LOC129936356, LOC129936357, LOC129936358, LOC129936359, LOC129936360, LOC129936361, LOC129936362, LOC129936363, LOC129936364, LOC129936365, LOC129936366, LOC129936367, LOC129936368, LOC129936369, LOC129936370, LOC129936371, LOC129936372, LOC129936373, LOC129936374, LOC129936375, LOC129936376, ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARL8B, ARPC4, ARPC4-TTLL3, ARPP21, ARPP21-AS1, ATG7, ATP2B2, ATP2B2-IT1, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CCR4, CCR8, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, CNOT10-AS1, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, CRTAP, CSRNP1, CTDSPL, CTNNB1, CX3CR1, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EDEM1, EFHB, EGOT, EIF1B, EIF1B-AS1, EMC3, EMC3-AS1, ENTPD3, ENTPD3-AS1, EOMES, EPM2AIP1, EXOG, FANCD2, FANCD2OS, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GHRL, GHRLOS, GLB1, GOLGA4, GOLGA4-AS1, GORASP1, GPD1L, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITGA9, ITGA9-AS1, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927467, LOC101927829, LOC101928135, LOC105376944, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365149, LOC111365150, LOC111365223, LOC111429626, LOC111465007, LOC111465009, LOC111501778, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC112935931, LOC112935932, LOC112935933, LOC112935934, LOC112935935, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121009658, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, LOC121725140, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028
See casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
3.
GRCh37:
Chr3:11504802-38961034
GRCh38:
Chr3:11463328-38919543
ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARPP21, ARPP21-AS1, ATG7, AZI2, BALR6, BTD, C3orf20, CAND2, CAPN7, CCDC174, CCR4, CHCHD4, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, CNOT10-AS1, COLQ, CRTAP, CTDSPL, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EFHB, EOMES, EPM2AIP1, EXOG, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GLB1, GOLGA4, GOLGA4-AS1, GPD1L, GRIP2, HACL1, HDAC11, HDAC11-AS1, IQSEC1, ITGA9, ITGA9-AS1, KAT2B, KCNH8, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107457584, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365150, LOC111365223, LOC111465007, LOC111465009, LOC111501778, LOC112268445, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC114803475, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC126806650, LOC126806651, LOC126806652, LOC129389024, LOC129389025, LOC129389026, LOC129389027, LOC129389028, LOC129389029, LOC129389030, LOC129389031, LOC129389032, LOC129389033, LOC129389034, LOC129389035, LOC129389036, LOC129389037, LOC129389038, LOC129389039, LOC129389040, LOC129389041, LOC129389042, LOC129389043, LOC129389044, LOC129389045, LOC129389046, LOC129389047, LOC129389048, LOC129389049, LOC129389050, LOC129389051, LOC129389052, LOC129389053, LOC129389054, LOC129389055, LOC129389056, LOC129389057, LOC129389058, LOC129936158, LOC129936159, LOC129936160, LOC129936161, LOC129936162, LOC129936163, LOC129936164, LOC129936165, LOC129936166, LOC129936167, LOC129936168, LOC129936169, LOC129936170, LOC129936171, LOC129936172, LOC129936173, LOC129936174, LOC129936175, LOC129936176, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, LOC129936184, LOC129936185, LOC129936186, LOC129936187, LOC129936188, LOC129936189, LOC129936190, LOC129936191, LOC129936192, LOC129936193, LOC129936194, LOC129936195, LOC129936196, LOC129936197, LOC129936198, LOC129936199, LOC129936200, LOC129936201, LOC129936202, LOC129936203, LOC129936204, LOC129936205, LOC129936206, LOC129936207, LOC129936208, LOC129936209, LOC129936210, LOC129936211, LOC129936212, LOC129936213, LOC129936214, LOC129936215, LOC129936216, LOC129936217, LOC129936218, LOC129936219, LOC129936220, LOC129936221, LOC129936222, LOC129936223, LOC129936224, LOC129936225, LOC129936226, LOC129936227, LOC129936228, LOC129936229, LOC129936230, LOC129936231, LOC129936232, LOC129936233, LOC129936234, LOC129936235, LOC129936236, LOC129936237, LOC129936238, LOC129936239, LOC129936240, LOC129936241, LOC129936242, LOC129936243, LOC129936244, LOC129936245, LOC129936246, LOC129936247, LOC129936248, LOC129936249, LOC129936250, LOC129936251, LOC129936252, LOC129936253, LOC129936254, LOC129936255, LOC129936256, LOC129936257, LOC129936258, LOC129936259, LOC129936260, LOC129936261, LOC129936262, LOC129936263, LOC129936264, LOC129936265, LOC129936266, LOC129936267, LOC129936268, LOC129936269, LOC129936270, LOC129936271, LOC129936272, LOC129936273, LOC129936274, LOC129936275, LOC129936276, LOC129936277, LOC129936278, LOC129936279, LOC129936280, LOC129936281, LOC129936282, LOC129936283, LOC129936284, LOC129936285, LOC129936286, LOC129936287, LOC129936288, LOC129936289, LOC129936290, LOC129936291, LOC129936292, LOC129936293, LOC129936294, LOC129936295, LOC129936296, LOC129936297, LOC129936298, LOC129936299, LOC129936300, LOC129936301, LOC129936302, LOC129936303, LOC129936304, LOC129936305, LOC129936306, LOC129936307, LOC129936308, LOC129936309, LOC129936310, LOC129936311, LOC129936312, LOC129936313, LOC129936314, LOC129936315, LOC129936316, LOC129936317, LOC129936318, LOC129936319, LOC129936320, LOC129936321, LOC129936322, LOC129936323, LOC129936324, LOC129936325, LOC129936326, LOC129936327, LOC129936328, LOC129936329, LOC129936330, LOC129936331, LOC129936332, LOC129936333, LOC129936334, LOC129936335, LOC129936336, LOC129936337, LOC129936338, LOC129936339, LOC129936340, LOC129936341, LOC129936342, LOC129936343, LOC129936344, LOC129936345, LOC129936346, LOC129936347, LOC129936348, LOC129936349, LOC129936350, LOC129936351, LOC129936352, LOC129936353, LOC129936354, LOC129936355, LOC129936356, LOC129936357, LOC129936358, LOC129936359, LOC129936360, LOC129936361, LOC129936362, LOC129936363, LOC129936364, LOC129936365, LOC129936366, LOC129936367, LOC129936368, LOC129936433, LOC129936434, LOC129936435, LOC129936436, LOC129936437, LOC129936438, LOC129936439, LOC129936440, LOC129936441, LOC129936442, LOC129936443, LOC129936444, LOC129936445, LOC129936446, LOC129936447, LOC129936448, LOC129936449, LOC129936450, LOC129936451, LOC129936452, LOC129936453, LOC129936454, LOC129936455, LOC129936456, LOC129936457, LOC129936458, LOC129936459, LOC129936460, LOC129936461, LOC129936462, LOC129936463, LOC129936464, LOC129936465, LOC129936466, LOC129936467, LOC129936468, LOC129936469, LOC129936470, LOC129936471, LOC129936472, LOC129936473, LOC129936474, LOC129936475, LOC129936476, LOC129936477, LOC129936478, LOC129936479, LOC129936480, LOC129936481, LOC129936482, LOC129936483, LOC129936484, LOC129936485, LOC129936486, LOC129936487, LOC129936488, LOC129936489, LOC129936490, LOC132088867, LOC132088868, LOC132088871, LOC132088872, LOC132088880, LOC132088882, LOC132088918, LOC132088919, LOC132088920, LOC132088921, LOC132088922, LOC132088923, LOC132088924, LOC132088925, LOC132088926, LOC132088927, LOC132088928, LOC132088929, LOC132088930, LOC132088931, LOC132088932, LOC132088933, LOC132088934, LOC132088935, LOC132088936, LOC132088937, LOC132088938, LOC132088939, LOC132088940, LOC132088941, LOC132088942, LOC132088943, LOC132088945, LOC132088946, LOC132088947, LOC132088948, LOC132088950, LOC132088951, LOC132088952, LOC132088953, LOC132088955, LOC132088956, LOC132088957, LOC132088958, LOC132088959, LOC132088960, LOC132088961, LOC132088962, LOC132090691, LOC132090692, LOC132090693, LOC132090694, LOC132090695, LOC132090696, LOC132205955, LRRC3B, LRRC3B-AS1, LRRFIP2, LSM3, METTL6, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR4270, MIR4442, MIR466, MIR4791, MIR548AY, MIR563, MKRN2, MKRN2OS, MLH1, MRPS25, MYD88, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, RAB5A, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, SATB1, SATB1-AS1, SCN10A, SCN11A, SCN5A, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC4A7, SLC6A6, SNORA7A, SNORA93, STAC, STT3B, SUSD5, SYN2, TAMM41, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TSEN2, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, VGLL4, VILL, WNT7A, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF860, LOC129936369, LOC129936370, LOC129936371, LOC129936372, LOC129936373, LOC129936374, LOC129936375, LOC129936376, LOC129936377, LOC129936378, LOC129936379, LOC129936380, LOC129936381, LOC129936382, LOC129936383, LOC129936384, LOC129936385, LOC129936386, LOC129936387, LOC129936388, LOC129936389, LOC129936390, LOC129936391, LOC129936392, LOC129936393, LOC129936394, LOC129936395, LOC129936396, LOC129936397, LOC129936398, LOC129936399, LOC129936400, LOC129936401, LOC129936402, LOC129936403, LOC129936404, LOC129936405, LOC129936406, LOC129936407, LOC129936408, LOC129936409, LOC129936410, LOC129936411, LOC129936412, LOC129936413, LOC129936414, LOC129936415, LOC129936416, LOC129936417, LOC129936418, LOC129936419, LOC129936420, LOC129936421, LOC129936422, LOC129936423, LOC129936424, LOC129936425, LOC129936426, LOC129936427, LOC129936428, LOC129936429, LOC129936430, LOC129936431, LOC129936432
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr3:33769898-40703942
GRCh38:
Chr3:33728406-40662451
LOC129936460, LOC129936461, LOC129936462, LOC129936463, LOC129936464, LOC129936465, LOC129936466, LOC129936467, LOC129936468, LOC129936469, LOC129936470, LOC129936471, LOC129936472, LOC129936473, LOC129936474, LOC129936475, LOC129936476, LOC129936477, LOC129936478, LOC129936479, LOC129936480, LOC129936481, LOC129936482, LOC129936483, LOC129936484, LOC129936485, LOC129936486, LOC129936487, LOC129936488, LOC129936489, LOC129936490, LOC129936491, LOC129936492, LOC129936493, LOC129936494, LOC129936495, LOC129936496, LOC129936497, LOC129936498, LOC129936499, LOC129936500, LOC129936501, LOC129936502, LOC129936503, LOC129936504, LOC129936505, LOC129936506, LOC129936507, LOC129936508, LOC129936509, LOC129936510, LOC129936511, LOC129936512, LOC129936513, LOC129936514, LOC129936515, LOC129936516, LOC129936517, LOC129936518, LOC129936519, LOC129936520, LOC129936521, LOC129936522, LOC129936523, LOC129936524, LOC129936525, LOC129936526, LOC129936527, LOC129936528, LOC129936529, LOC129936530, LRRFIP2, MIR128-2, MIR26A1, MIR6822, MLH1, MOBP, MYD88, MYRIP, OXSR1, PDCD6IP, PDCD6IP-DT, PLCD1, RPL14, RPSA, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, SLC25A38, SNORA6, SNORA62, STAC, TRANK1, TTC21A, VILL, WDR48, XIRP1, XYLB, ZNF619, ZNF620, ZNF621, ACAA1, ACVR2B, ACVR2B-AS1, APRG1, ARPP21, ARPP21-AS1, CCR8, CSRNP1, CTDSPL, CX3CR1, DCLK3, DLEC1, EIF1B, EIF1B-AS1, ENTPD3, ENTPD3-AS1, EPM2AIP1, EXOG, GOLGA4, GOLGA4-AS1, GORASP1, ITGA9, ITGA9-AS1, LINC01811, LINC02033, LOC101928135, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365149, LOC111465007, LOC112935929, LOC112935930, LOC112935933, LOC115995508, LOC115995509, LOC120285841, LOC121009656, LOC121009657, LOC121009658, LOC121725139, LOC121725140, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC122889070, LOC122889071, LOC122889072, LOC126806650, LOC126806651, LOC126806652, LOC126806653, LOC126806654, LOC129389053, LOC129389054, LOC129389055, LOC129389056, LOC129389057, LOC129389058, LOC129389059, LOC129936448, LOC129936449, LOC129936450, LOC129936451, LOC129936452, LOC129936453, LOC129936454, LOC129936455, LOC129936456, LOC129936457, LOC129936458, LOC129936459
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
5.
GRCh37:
Chr3:36870006-37048718
GRCh38:
Chr3:36828515-37007227
See casesPathogenic
(Aug 20, 2012)
no assertion criteria provided
6.
GRCh37:
Chr3:36976785-37099615
GRCh38:
Chr3:36935294-37058124
See casesBenign
(Oct 20, 2010)
no assertion criteria provided
7.
GRCh37:
Chr3:36980520-37086085
GRCh38:
Chr3:36939029-37044594
Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
8.
GRCh37:
Chr3:37030175
GRCh38:
Chr3:36988684
EPM2AIP1, MLH1Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
9.
GRCh37:
Chr3:37034446
GRCh38:
Chr3:36992955
EPM2AIP1, LOC129936471, MLH1not providedBenign
(Jun 27, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr3:37034542-37092154
GRCh38:
Chr3:36993051-37050663
EPM2AIP1, LOC129936471, MLH1Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Apr 7, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr3:37034542-37053600
GRCh38:
Chr3:36993051-37012109
EPM2AIP1, LOC129936471, MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(May 13, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr3:37034542-37038210
GRCh38:
Chr3:36993051-36996719
EPM2AIP1, LOC129936471, MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Jul 27, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr3:37034542-37070433
GRCh38:
Chr3:36993051-37028942
EPM2AIP1, LOC129936471, MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Aug 12, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr3:37034542-37050406
GRCh38:
Chr3:36993051-37008915
EPM2AIP1, LOC129936471, MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Aug 12, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr3:37034542-37092154
GRCh38:
Chr3:36993051-37050663
EPM2AIP1, LOC129936471, MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Sep 16, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr3:37034542-37045971
GRCh38:
Chr3:36993051-37004480
EPM2AIP1, LOC129936471, MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Nov 11, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr3:37034542-37092150
GRCh38:
Chr3:36993051-37050659
EPM2AIP1, LOC129936471, MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(May 15, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr3:37034542-37059096
GRCh38:
Chr3:36993051-37017605
EPM2AIP1, LOC129936471, MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Feb 21, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr3:37034562
GRCh38:
Chr3:36993071
EPM2AIP1, LOC129936471, MLH1M3VHereditary nonpolyposis colorectal neoplasmsUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr3:37034655-37038803
GRCh38:
Chr3:36993164-36997312
LOC129936471, MLH1Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
21.
GRCh37:
Chr3:37034670
GRCh38:
Chr3:36993179
LOC129936471, MLH1Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr3:37034702
GRCh38:
Chr3:36993211
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Feb 28, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr3:37034705
GRCh38:
Chr3:36993214
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 26, 2019)
criteria provided, single submitter
24.
GRCh37:
Chr3:37034707
GRCh38:
Chr3:36993216
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Feb 3, 2020)
criteria provided, single submitter
25.
GRCh37:
Chr3:37034712
GRCh38:
Chr3:36993221
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Jun 7, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr3:37034713
GRCh38:
Chr3:36993222
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Jun 8, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr3:37034714
GRCh38:
Chr3:36993223
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Jun 19, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr3:37034715
GRCh38:
Chr3:36993224
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 31, 2020)
criteria provided, single submitter
29.
GRCh37:
Chr3:37034719
GRCh38:
Chr3:36993228
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Jul 15, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr3:37034731
GRCh38:
Chr3:36993240
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(May 18, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr3:37034732
GRCh38:
Chr3:36993241
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(May 26, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr3:37034735
GRCh38:
Chr3:36993244
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 25, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr3:37034736-37034756
GRCh38:
Chr3:36993245-36993265
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 16, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr3:37034736
GRCh38:
Chr3:36993245
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Apr 17, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr3:37034737
GRCh38:
Chr3:36993246
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Feb 4, 2020)
criteria provided, single submitter
36.
GRCh37:
Chr3:37034737
GRCh38:
Chr3:36993246
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(May 1, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr3:37034738
GRCh38:
Chr3:36993247
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Oct 11, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr3:37034739
GRCh38:
Chr3:36993248
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 28, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr3:37034740
GRCh38:
Chr3:36993249
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 14, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr3:37034741
GRCh38:
Chr3:36993250
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Apr 3, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr3:37034744
GRCh38:
Chr3:36993253
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Apr 2, 2020)
criteria provided, single submitter
42.
GRCh37:
Chr3:37034745
GRCh38:
Chr3:36993254
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Apr 20, 2020)
criteria provided, single submitter
43.
GRCh37:
Chr3:37034746
GRCh38:
Chr3:36993255
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 27, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr3:37034748
GRCh38:
Chr3:36993257
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 27, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr3:37034751
GRCh38:
Chr3:36993260
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 10, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr3:37034753
GRCh38:
Chr3:36993262
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Jul 22, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr3:37034754
GRCh38:
Chr3:36993263
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Apr 16, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr3:37034754
GRCh38:
Chr3:36993263
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 9, 2019)
criteria provided, single submitter
49.
GRCh37:
Chr3:37034754
GRCh38:
Chr3:36993263
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 19, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr3:37034759-37034771
GRCh38:
Chr3:36993268-36993280
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Nov 30, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr3:37034759
GRCh38:
Chr3:36993268
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Dec 19, 2019)
criteria provided, single submitter
52.
GRCh37:
Chr3:37034760
GRCh38:
Chr3:36993269
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Feb 21, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr3:37034765
GRCh38:
Chr3:36993274
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 4, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr3:37034766
GRCh38:
Chr3:36993275
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Jan 8, 2019)
criteria provided, single submitter
55.
GRCh37:
Chr3:37034769
GRCh38:
Chr3:36993278
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 14, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr3:37034770
GRCh38:
Chr3:36993279
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 16, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr3:37034770
GRCh38:
Chr3:36993279
MLH1Lynch syndromeLikely benign
(Sep 5, 2013)
reviewed by expert panel
58.
GRCh37:
Chr3:37034773
GRCh38:
Chr3:36993282
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Apr 30, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr3:37034774
GRCh38:
Chr3:36993283
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Feb 17, 2020)
criteria provided, single submitter
60.
GRCh37:
Chr3:37034776
GRCh38:
Chr3:36993285
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(May 7, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr3:37034777
GRCh38:
Chr3:36993286
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Oct 15, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr3:37034777
GRCh38:
Chr3:36993286
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 20, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr3:37034778
GRCh38:
Chr3:36993287
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Oct 31, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr3:37034778
GRCh38:
Chr3:36993287
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Oct 20, 2017)
criteria provided, single submitter
65.
GRCh37:
Chr3:37034779-37034780
GRCh38:
Chr3:36993288-36993289
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Dec 12, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr3:37034780
GRCh38:
Chr3:36993289
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Dec 18, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr3:37034781
GRCh38:
Chr3:36993290
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Dec 13, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr3:37034782
GRCh38:
Chr3:36993291
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 31, 2020)
criteria provided, single submitter
69.
GRCh37:
Chr3:37034782
GRCh38:
Chr3:36993291
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(May 14, 2019)
criteria provided, single submitter
70.
GRCh37:
Chr3:37034783
GRCh38:
Chr3:36993292
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Jul 16, 2019)
criteria provided, single submitter
71.
GRCh37:
Chr3:37034783
GRCh38:
Chr3:36993292
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Nov 16, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr3:37034785
GRCh38:
Chr3:36993294
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 8, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr3:37034786
GRCh38:
Chr3:36993295
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Apr 3, 2019)
criteria provided, single submitter
74.
GRCh37:
Chr3:37034787
GRCh38:
Chr3:36993296
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 20, 2019)
criteria provided, single submitter
75.
GRCh37:
Chr3:37034787
GRCh38:
Chr3:36993296
MLH1Hereditary cancer-predisposing syndromeLikely benign
(Dec 12, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr3:37034788
GRCh38:
Chr3:36993297
MLH1Hereditary cancer-predisposing syndromeLikely benign
(Mar 23, 2023)
criteria provided, single submitter
77.
GRCh37:
Chr3:37034789
GRCh38:
Chr3:36993298
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 31, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr3:37034790
GRCh38:
Chr3:36993299
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 12, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr3:37034791
GRCh38:
Chr3:36993300
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Oct 6, 2014)
criteria provided, single submitter
80.
GRCh37:
Chr3:37034795
GRCh38:
Chr3:36993304
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Feb 17, 2020)
criteria provided, single submitter
81.
GRCh37:
Chr3:37034796
GRCh38:
Chr3:36993305
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Apr 2, 2020)
criteria provided, single submitter
82.
GRCh37:
Chr3:37034798
GRCh38:
Chr3:36993307
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Nov 20, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr3:37034798
GRCh38:
Chr3:36993307
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 18, 2019)
criteria provided, single submitter
84.
GRCh37:
Chr3:37034804
GRCh38:
Chr3:36993313
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Oct 24, 2017)
criteria provided, single submitter
85.
GRCh37:
Chr3:37034804
GRCh38:
Chr3:36993313
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Dec 5, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr3:37034806
GRCh38:
Chr3:36993315
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Jun 29, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr3:37034806
GRCh38:
Chr3:36993315
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 30, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr3:37034809
GRCh38:
Chr3:36993318
MLH1Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndromeLikely benign
(Jul 31, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr3:37034810
GRCh38:
Chr3:36993319
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Apr 26, 2017)
criteria provided, single submitter
90.
GRCh37:
Chr3:37034812
GRCh38:
Chr3:36993321
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Jun 28, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr3:37034815
GRCh38:
Chr3:36993324
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 6, 2019)
criteria provided, single submitter
92.
GRCh37:
Chr3:37034816
GRCh38:
Chr3:36993325
MLH1Hereditary cancer-predisposing syndromeLikely benign
(Feb 14, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr3:37034816
GRCh38:
Chr3:36993325
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Dec 11, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr3:37034817
GRCh38:
Chr3:36993326
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 27, 2019)
criteria provided, single submitter
95.
GRCh37:
Chr3:37034818
GRCh38:
Chr3:36993327
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Dec 31, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr3:37034818
GRCh38:
Chr3:36993327
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Feb 20, 2014)
criteria provided, single submitter
97.
GRCh37:
Chr3:37034819
GRCh38:
Chr3:36993328
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 29, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr3:37034819
GRCh38:
Chr3:36993328
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Nov 20, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr3:37034820
GRCh38:
Chr3:36993329
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Feb 8, 2019)
criteria provided, single submitter
100.
GRCh37:
Chr3:37034820
GRCh38:
Chr3:36993329
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
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