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Items: 1 to 100 of 949

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:
Chr3:30647160
GRCh38:
Chr3:30605668
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionBenign
(Nov 4, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr3:30647717
GRCh38:
Chr3:30606225
TGFBR2not providedLikely benign
(Jun 26, 2018)		criteria provided, single submitter
6.
GRCh37:
Chr3:30647988
GRCh38:
Chr3:30606496
TGFBR2Loeys-Dietz syndrome 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
7.
GRCh37:
Chr3:30648005
GRCh38:
Chr3:30606513
TGFBR2Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2,
Loeys-Dietz syndrome, Loeys-Dietz syndrome 2, Marfan syndrome
Uncertain significance
(Sep 14, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:30648032
GRCh38:
Chr3:30606540
TGFBR2Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
9.
GRCh37:
Chr3:30648039
GRCh38:
Chr3:30606547
TGFBR2Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Malignant tumor of esophagus,
Colorectal cancer, hereditary nonpolyposis, type 6		Uncertain significance
(Oct 4, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr3:30648060-30648117
GRCh38:
Chr3:30606568-30606625
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Oct 25, 2019)		criteria provided, single submitter
11.
GRCh37:
Chr3:30648061-30648353
GRCh38:
Chr3:30606569-30606861
LOC129936399, TGFBR2Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Apr 14, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr3:30648069
GRCh38:
Chr3:30606577
TGFBR2Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2,
Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
Uncertain significance
(Aug 24, 2021)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:30648074
GRCh38:
Chr3:30606582
TGFBR2not provided, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome		Likely benign
(Jun 26, 2018)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:30648127
GRCh38:
Chr3:30606635
TGFBR2Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr3:30648148
GRCh38:
Chr3:30606656
TGFBR2Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
16.
GRCh37:
Chr3:30648181
GRCh38:
Chr3:30606689
LOC129936399, TGFBR2Loeys-Dietz syndrome 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr3:30648183
GRCh38:
Chr3:30606691
LOC129936399, TGFBR2Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
Loeys-Dietz syndrome 2, Loeys-Dietz syndrome, Marfan syndrome
Uncertain significance
(Aug 23, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr3:30648248
GRCh38:
Chr3:30606756
LOC129936399, TGFBR2not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2,
Loeys-Dietz syndrome		Benign
(Jun 14, 2018)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr3:30648254
GRCh38:
Chr3:30606762
LOC129936399, TGFBR2Loeys-Dietz syndrome 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr3:30648259
GRCh38:
Chr3:30606767
LOC129936399, TGFBR2Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
21.
GRCh37:
Chr3:30648317
GRCh38:
Chr3:30606825
TGFBR2not providedUncertain significance
(Dec 1, 2020)		criteria provided, single submitter
22.
GRCh37:
Chr3:30648345
GRCh38:
Chr3:30606853
TGFBR2not specifiedLikely benign
(Oct 26, 2017)		criteria provided, single submitter
23.
GRCh37:
Chr3:30648349
GRCh38:
Chr3:30606857
TGFBR2not providedUncertain significance
(Jan 17, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr3:30648350
GRCh38:
Chr3:30606858
TGFBR2Loeys-Dietz syndrome 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr3:30648358
GRCh38:
Chr3:30606866
TGFBR2Loeys-Dietz syndrome, Marfan syndrome, Loeys-Dietz syndrome 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr3:30648363
GRCh38:
Chr3:30606871
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Mar 15, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr3:30648367
GRCh38:
Chr3:30606875
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jul 28, 2019)		criteria provided, single submitter
28.
GRCh37:
Chr3:30648368
GRCh38:
Chr3:30606876
TGFBR2not specifiedUncertain significance
(Feb 24, 2012)		criteria provided, single submitter
29.
GRCh37:
Chr3:30648376
GRCh38:
Chr3:30606884
TGFBR2M1VFamilial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6,
Malignant tumor of esophagus		Uncertain significance
(Nov 15, 2021)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr3:30648379
GRCh38:
Chr3:30606887
TGFBR2G2SFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 14, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr3:30648379
GRCh38:
Chr3:30606887
TGFBR2G2Cnot specified, not provided, Familial thoracic aortic aneurysm and aortic dissection
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr3:30648381
GRCh38:
Chr3:30606889
TGFBR2not provided, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr3:30648382
GRCh38:
Chr3:30606890
TGFBR2R3WLoeys-Dietz syndrome 2Uncertain significance
(Nov 25, 2022)		criteria provided, single submitter
34.
GRCh37:
Chr3:30648383
GRCh38:
Chr3:30606891
TGFBR2R3QFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Oct 1, 2019)		criteria provided, single submitter
35.
GRCh37:
Chr3:30648384
GRCh38:
Chr3:30606892
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jun 25, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr3:30648387
GRCh38:
Chr3:30606895
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 21, 2021)		criteria provided, single submitter
37.
GRCh37:
Chr3:30648389-30648390
GRCh38:
Chr3:30606897-30606898
TGFBR2L9fsFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Oct 3, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr3:30648390
GRCh38:
Chr3:30606898
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Mar 4, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr3:30648391
GRCh38:
Chr3:30606899
TGFBR2L6FFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jul 17, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr3:30648392
GRCh38:
Chr3:30606900
TGFBR2L6PInborn genetic diseasesUncertain significance
(May 8, 2023)		criteria provided, single submitter
41.
GRCh37:
Chr3:30648406
GRCh38:
Chr3:30606914
TGFBR2P11SFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 24, 2021)		criteria provided, single submitter
42.
GRCh37:
Chr3:30648408
GRCh38:
Chr3:30606916
TGFBR2Familial thoracic aortic aneurysm and aortic dissection, not providedLikely benign
(Jun 10, 2020)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr3:30648417
GRCh38:
Chr3:30606925
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jun 22, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr3:30648417
GRCh38:
Chr3:30606925
TGFBR2I14Mnot providedUncertain significance
(Dec 10, 2019)		criteria provided, single submitter
45.
GRCh37:
Chr3:30648418
GRCh38:
Chr3:30606926
TGFBR2V15IFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Apr 28, 2021)		criteria provided, single submitter
46.
GRCh37:
Chr3:30648418
GRCh38:
Chr3:30606926
TGFBR2V15FFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 20, 2021)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr3:30648429
GRCh38:
Chr3:30606937
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Sep 27, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr3:30648429
GRCh38:
Chr3:30606937
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr3:30648431
GRCh38:
Chr3:30606939
TGFBR2R19Lnot providedUncertain significance
(Sep 19, 2019)		criteria provided, single submitter
50.
GRCh37:
Chr3:30648431
GRCh38:
Chr3:30606939
TGFBR2R19HFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Feb 7, 2020)		criteria provided, single submitter
51.
GRCh37:
Chr3:30648433
GRCh38:
Chr3:30606941
TGFBR2I20VFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 28, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr3:30648439
GRCh38:
Chr3:30606947
TGFBR2S22Cnot provided, Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jul 21, 2023)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr3:30648444
GRCh38:
Chr3:30606952
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 28, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr3:30648444
GRCh38:
Chr3:30606952
TGFBR2not provided, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
Conflicting interpretations of pathogenicity
(Sep 14, 2022)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr3:30648445
GRCh38:
Chr3:30606953
TGFBR2I24Fnot providedUncertain significance
(Feb 10, 2020)		criteria provided, single submitter
56.
GRCh37:
Chr3:30648450
GRCh38:
Chr3:30606958
TGFBR2not specified, Familial thoracic aortic aneurysm and aortic dissectionBenign/Likely benign
(Mar 17, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr3:30648451
GRCh38:
Chr3:30606959
TGFBR2P26SColorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2, Malignant tumor of esophagus,
not provided, Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Mar 2, 2023)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr3:30648453
GRCh38:
Chr3:30606961
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Aug 21, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr3:30648453-30648454
GRCh38:
Chr3:30606961-30606962
TGFBR2H27NFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jul 5, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr3:30648453
GRCh38:
Chr3:30606961
TGFBR2Familial thoracic aortic aneurysm and aortic dissection, not specifiedLikely benign
(Feb 5, 2023)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr3:30648456
GRCh38:
Chr3:30606964
TGFBR2not specified, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jun 27, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr3:30648462
GRCh38:
Chr3:30606970
TGFBR2Q29HFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 28, 2023)		criteria provided, single submitter
63.
GRCh37:
Chr3:30648462
GRCh38:
Chr3:30606970
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 25, 2021)		criteria provided, single submitter
64.
GRCh37:
Chr3:30648466
GRCh38:
Chr3:30606974
TGFBR2S31AFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2023)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr3:30648469
GRCh38:
Chr3:30606977
TGFBR2D32Y, V32F, E32*Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 15, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr3:30648475
GRCh38:
Chr3:30606983
TGFBR2Familial thoracic aortic aneurysm and aortic dissection, not providedUncertain significance
(Apr 29, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr3:30648476
GRCh38:
Chr3:30606984
TGFBR2not providedUncertain significance
(Sep 1, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr3:30648509
GRCh38:
Chr3:30607017
TGFBR2not providedLikely benign
(May 23, 2021)		criteria provided, single submitter
69.
GRCh37:
Chr3:30664406-30664411
GRCh38:
Chr3:30622914-30622919
TGFBR2not providedBenign
(Aug 15, 2019)		criteria provided, single submitter
70.
GRCh37:
Chr3:30664495-30708009
GRCh38:
Chr3:30623003-30666517
TGFBR2See casesUncertain significance
(Aug 12, 2011)		criteria provided, single submitter
71.
GRCh37:
Chr3:30664495-30697848
GRCh38:
Chr3:30623003-30656356
TGFBR2See casesUncertain significance
(Aug 12, 2011)		criteria provided, single submitter
72.
GRCh37:
Chr3:30664671
GRCh38:
Chr3:30623179
TGFBR2not specified, not providedBenign/Likely benign
(Jan 21, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr3:30664705
GRCh38:
Chr3:30623213
TGFBR2A37T, A21TFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 5, 2017)		criteria provided, single submitter
74.
GRCh37:
Chr3:30664707
GRCh38:
Chr3:30623215
TGFBR2Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2,
not specified, Familial thoracic aortic aneurysm and aortic dissection		Benign/Likely benign
(Aug 9, 2021)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr3:30664714
GRCh38:
Chr3:30623222
TGFBR2D40N, D24Nnot provided, Familial thoracic aortic aneurysm and aortic dissection, not specified
Likely benign
(Apr 1, 2023)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr3:30664725
GRCh38:
Chr3:30623233
TGFBR2not provided, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Aug 1, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr3:30664729
GRCh38:
Chr3:30623237
TGFBR2P45T, P29Tnot providedUncertain significance
(Jan 27, 2020)		criteria provided, single submitter
78.
GRCh37:
Chr3:30664729
GRCh38:
Chr3:30623237
TGFBR2P45S, P29Snot providedUncertain significance
(Dec 28, 2020)		criteria provided, single submitter
79.
GRCh37:
Chr3:30664729
GRCh38:
Chr3:30623237
TGFBR2P45A, P29Anot providedUncertain significance
(Jun 28, 2023)		criteria provided, single submitter
80.
GRCh37:
Chr3:30664732
GRCh38:
Chr3:30623240
TGFBR2S46R, S30RFamilial thoracic aortic aneurysm and aortic dissection, not providedLikely benign
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:30664742
GRCh38:
Chr3:30623250
TGFBR2R49K, R33Knot providedUncertain significance
(Nov 13, 2017)		criteria provided, single submitter
82.
GRCh37:
Chr3:30664747
GRCh38:
Chr3:30623255
TGFBR2A51P, A35Pnot provided, Familial thoracic aortic aneurysm and aortic dissectionConflicting interpretations of pathogenicity
(Apr 3, 2023)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr3:30664751
GRCh38:
Chr3:30623259
TGFBR2H36R, H52Rnot providedUncertain significance
(May 4, 2023)		criteria provided, single submitter
84.
GRCh37:
Chr3:30664762
GRCh38:
Chr3:30623270
TGFBR2H56N, H40NMalignant tumor of esophagus, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6,
not provided, Familial thoracic aortic aneurysm and aortic dissection		Conflicting interpretations of pathogenicity
(Jun 28, 2023)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr3:30664768
GRCh38:
Chr3:30623276
TGFBR2Familial thoracic aortic aneurysm and aortic dissectionBenign
(Oct 17, 2021)		criteria provided, single submitter
86.
GRCh37:
Chr3:30664777
GRCh38:
Chr3:30623285
TGFBR2not specifiedLikely benign
(Jan 25, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr3:30670420-30697848
GRCh38:
Chr3:30628928-30656356
TGFBR2See casesUncertain significance
(Aug 12, 2011)		criteria provided, single submitter
88.
GRCh37:
Chr3:30676131-30680105
GRCh38:
Chr3:30634639-30638613
TGFBR2See casesBenign
(Nov 30, 2010)		no assertion criteria provided
89.
GRCh37:
Chr3:30680105-30795662
GRCh38:
Chr3:30638613-30754170
GADL1, TGFBR2See casesUncertain significance
(Apr 14, 2011)		no assertion criteria provided
90.
GRCh37:
Chr3:30680105-30697848
GRCh38:
Chr3:30638613-30656356
TGFBR2See casesUncertain significance
(Aug 12, 2011)		criteria provided, single submitter
91.
GRCh37:
Chr3:30682560
GRCh38:
Chr3:30641068
TGFBR2Loeys-Dietz syndrome 2Uncertain significance
(Jul 23, 2021)		criteria provided, single submitter
92.
GRCh37:
Chr3:30682939
GRCh38:
Chr3:30641447
TGFBR2Familial thoracic aortic aneurysm and aortic dissection, not providedBenign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr3:30682947
GRCh38:
Chr3:30641455
TGFBR2not providedBenign
(Jun 14, 2019)		criteria provided, single submitter
94.
GRCh37:
Chr3:30682977
GRCh38:
Chr3:30641485
TGFBR2not providedBenign
(Jun 14, 2019)		criteria provided, single submitter
95.
GRCh37:
Chr3:30683034
GRCh38:
Chr3:30641542
TGFBR2not providedBenign
(Jun 14, 2019)		criteria provided, single submitter
96.
GRCh37:
Chr3:30683182
GRCh38:
Chr3:30641690
TGFBR2not providedBenign
(Jun 21, 2019)		criteria provided, single submitter
97.
GRCh37:
Chr3:30683201
GRCh38:
Chr3:30641709
TGFBR2not providedBenign
(Jun 14, 2019)		criteria provided, single submitter
98.
GRCh37:
Chr3:30684683
GRCh38:
Chr3:30643191
TGFBR2not providedBenign
(Jun 14, 2019)		criteria provided, single submitter
99.
GRCh37:
Chr3:30684907
GRCh38:
Chr3:30643415
TGFBR2not provided, Familial thoracic aortic aneurysm and aortic dissectionBenign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr3:30686219
GRCh38:
Chr3:30644727
TGFBR2not specified, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
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