| - 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 cases | Pathogenic (Jun 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:41265233
- GRCh38:
- Chr3:41223742
| CTNNB1 | | not provided | Likely benign (Jul 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41265329
- GRCh38:
- Chr3:41223838
| CTNNB1 | | not provided | Likely benign (Sep 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41265503
- GRCh38:
- Chr3:41224012
| CTNNB1 | | not provided | Likely benign (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41265560
- GRCh38:
- Chr3:41224069
| CTNNB1 | M1V | CTNNB1-related syndromic intellectual disability | Uncertain significance (Jan 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41265564
- GRCh38:
- Chr3:41224073
| CTNNB1 | A2G | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41265583
- GRCh38:
- Chr3:41224092
| CTNNB1 | | not provided | Likely benign (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41265592
- GRCh38:
- Chr3:41224101
| CTNNB1 | | not provided | Likely benign (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41265999
- GRCh38:
- Chr3:41224508
| CTNNB1, LOC126806658 | | not provided | Likely benign (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266006
- GRCh38:
- Chr3:41224515
| CTNNB1, LOC126806658 | | not provided | Likely benign (Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266007
- GRCh38:
- Chr3:41224516
| CTNNB1, LOC126806658 | | not provided | Likely benign (Feb 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:41266010-41266011
- GRCh38:
- Chr3:41224519-41224520
| CTNNB1, LOC126806658 | | not provided | Likely benign (Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266013
- GRCh38:
- Chr3:41224522
| CTNNB1, LOC126806658 | | Neoplasm of ovary, Pilomatrixoma, Colorectal cancer, Exudative vitreoretinopathy 7, Medulloblastoma, Severe intellectual disability-progressive spastic diplegia syndrome, Hepatocellular carcinoma, not provided | Benign/Likely benign (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:41266017
- GRCh38:
- Chr3:41224526
| CTNNB1, LOC126806658 | A5G | not provided | Uncertain significance (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266018
- GRCh38:
- Chr3:41224527
| CTNNB1, LOC126806658 | | not provided | Likely benign (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266026
- GRCh38:
- Chr3:41224535
| CTNNB1, LOC126806658 | M8T, M1T | Intellectual disability | Likely benign (Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266030
- GRCh38:
- Chr3:41224539
| CTNNB1, LOC126806658 | E9D, E2D | not provided | Uncertain significance (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266030
- GRCh38:
- Chr3:41224539
| CTNNB1, LOC126806658 | | not provided | Likely benign (May 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266040
- GRCh38:
- Chr3:41224549
| CTNNB1, LOC126806658 | A13T, A6T | Melanoma | Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266043
- GRCh38:
- Chr3:41224552
| CTNNB1, LOC126806658 | M14V, M7V | not provided | Uncertain significance (Mar 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266044
- GRCh38:
- Chr3:41224553
| CTNNB1, LOC126806658 | M14T, M7T | not provided | Uncertain significance (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266046
- GRCh38:
- Chr3:41224555
| CTNNB1, LOC126806658 | E15K, E8K | Severe intellectual disability-progressive spastic diplegia syndrome | Uncertain significance (Dec 12, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266048
- GRCh38:
- Chr3:41224557
| LOC126806658, CTNNB1 | E15D, E8D | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr3:41266062
- GRCh38:
- Chr3:41224571
| CTNNB1, LOC126806658 | A20V, A13V | not provided, CTNNB1-related condition | Uncertain significance (Dec 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:41266063
- GRCh38:
- Chr3:41224572
| CTNNB1, LOC126806658 | | not provided | Likely benign (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266064
- GRCh38:
- Chr3:41224573
| CTNNB1, LOC126806658 | A21T, A14T | Melanoma | Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266066-41266116
- GRCh38:
- Chr3:41224575-41224625
| CTNNB1, LOC126806658 | | Melanoma | Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266068
- GRCh38:
- Chr3:41224577
| CTNNB1, LOC126806658 | V22A, V15A | Melanoma | Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266069-41266070
- GRCh38:
- Chr3:41224578-41224579
| CTNNB1, LOC126806658 | S16fs, S23fs | not provided | Pathogenic (Jan 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266070
- GRCh38:
- Chr3:41224579
| CTNNB1, LOC126806658 | S16G, S23G | not provided | Uncertain significance (Oct 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266074
- GRCh38:
- Chr3:41224583
| CTNNB1, LOC126806658 | H17L, H24L | not provided | Uncertain significance (Apr 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266074-41266097
- GRCh38:
- Chr3:41224583-41224606
| CTNNB1, LOC126806658 | | Melanoma | Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266082-41266083
- GRCh38:
- Chr3:41224591-41224592
| CTNNB1, LOC126806658 | Q21fs, Q28fs | Severe intellectual disability-progressive spastic diplegia syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:41266084
- GRCh38:
- Chr3:41224593
| CTNNB1, LOC126806658 | | not provided | Likely benign (Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:41266086-41266097
- GRCh38:
- Chr3:41224595-41224606
| CTNNB1, LOC126806658 | | Hepatoblastoma | other (May 1, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266087
- GRCh38:
- Chr3:41224596
| CTNNB1, LOC126806658 | Q21H, Q28H | not provided | Uncertain significance (Mar 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:41266089
- GRCh38:
- Chr3:41224598
| CTNNB1, LOC126806658 | S22C, S29C | not provided | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266097
- GRCh38:
- Chr3:41224606
| CTNNB1, LOC126806658 | D32N, D25N | Juvenile nasopharyngeal angiofibroma | Pathogenic (Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266097
- GRCh38:
- Chr3:41224606
| CTNNB1, LOC126806658 | D32H, D25H | Neoplasm of uterine cervix, Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Malignant melanoma of skin, Medulloblastoma, Melanoma, Hepatocellular carcinoma, Transitional cell carcinoma of the bladder
| Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266097
- GRCh38:
- Chr3:41224606
| CTNNB1, LOC126806658 | D32Y, D25Y | Gastric adenocarcinoma, Malignant melanoma of skin, Hepatocellular carcinoma, Medulloblastoma, Hepatoblastoma, Craniopharyngioma, Neoplasm of uterine cervix, Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Pilomatrixoma, Transitional cell carcinoma of the bladder ...see more | Pathogenic/Likely pathogenic; other (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266098
- GRCh38:
- Chr3:41224607
| LOC126806658, CTNNB1 | D32V, D25V | Prostate adenocarcinoma, Gastric adenocarcinoma, Neoplasm of uterine cervix, Endometrial neoplasm, Malignant neoplasm of body of uterus, Malignant melanoma of skin, Hepatocellular carcinoma, Medulloblastoma, Transitional cell carcinoma of the bladder
| Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266098
- GRCh38:
- Chr3:41224607
| CTNNB1, LOC126806658 | D32A, D25A | Neoplasm of uterine cervix, Melanoma, Gastric adenocarcinoma, Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Malignant melanoma of skin, Hepatocellular carcinoma, Medulloblastoma, Transitional cell carcinoma of the bladder
| Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266098
- GRCh38:
- Chr3:41224607
| CTNNB1, LOC126806658 | D32G, D25G | Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Medulloblastoma, Melanoma, Neoplasm of uterine cervix, Prostate adenocarcinoma, not provided, Hepatocellular carcinoma, Malignant melanoma of skin, Pilomatrixoma, Transitional cell carcinoma of the bladder ...see more | Pathogenic/Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266100
- GRCh38:
- Chr3:41224609
| CTNNB1, LOC126806658 | S33T, S26T | Neoplasm of the large intestine, Malignant neoplasm of body of uterus, Prostate adenocarcinoma, Esophageal carcinoma, Pancreatic adenocarcinoma, Malignant melanoma of skin, Hepatocellular carcinoma, Lung adenocarcinoma, Medulloblastoma, Gastric adenocarcinoma, Transitional cell carcinoma of the bladder ...see more | Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266100
- GRCh38:
- Chr3:41224609
| CTNNB1, LOC126806658 | S33A, S26A | Neoplasm of the large intestine, Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Esophageal carcinoma, Malignant melanoma of skin, Hepatocellular carcinoma, Lung adenocarcinoma, Medulloblastoma, Transitional cell carcinoma of the bladder, Gastric adenocarcinoma, Pancreatic adenocarcinoma ...see more | Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266100
- GRCh38:
- Chr3:41224609
| LOC126806658, CTNNB1 | S33P, S26P | Malignant neoplasm of body of uterus, Neoplasm of the large intestine, Prostate adenocarcinoma, Gastric adenocarcinoma, Esophageal carcinoma, Pancreatic adenocarcinoma, Malignant melanoma of skin, Lung adenocarcinoma, Hepatocellular carcinoma, Medulloblastoma, Transitional cell carcinoma of the bladder ...see more | Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266101
- GRCh38:
- Chr3:41224610
| CTNNB1, LOC126806658 | S33C, S26C | Neoplasm of the parathyroid gland, Malignant neoplasm of body of uterus, Prostate adenocarcinoma, Gastric adenocarcinoma, Neoplasm of the large intestine, Neoplasm of brain, Malignant melanoma of skin, Neoplasm of ovary, Lung adenocarcinoma, Hepatocellular carcinoma, MedulloblastomaTransitional cell carcinoma of the bladder, Esophageal carcinoma, Pancreatic adenocarcinoma, ...see more | Likely pathogenic; other (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266101
- GRCh38:
- Chr3:41224610
| CTNNB1, LOC126806658 | S33F, S26F | ADRENAL CORTICAL NEOPLASM, Malignant neoplasm of body of uterus, Prostate adenocarcinoma, Gastric adenocarcinoma, Neoplasm of the large intestine, Esophageal carcinoma, Pancreatic adenocarcinoma, Hepatocellular carcinoma, Pilomatrixoma, Malignant melanoma of skin, Malignant tumor of urinary bladderMedulloblastoma, Lung adenocarcinoma, Transitional cell carcinoma of the bladder, ...see more | Pathogenic/Likely pathogenic; other (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266101
- GRCh38:
- Chr3:41224610
| CTNNB1, LOC126806658 | S33Y, S26Y | Endometrial neoplasm, Gastric adenocarcinoma, Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine, Esophageal carcinoma, Pancreatic adenocarcinoma, Malignant melanoma of skin, Hepatocellular carcinoma, Pilomatrixoma, MedulloblastomaLung adenocarcinoma, Carcinoma of colon, Transitional cell carcinoma of the bladder, ...see more | Pathogenic/Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266103
- GRCh38:
- Chr3:41224612
| CTNNB1, LOC126806658 | G34R, G27R | Gastric adenocarcinoma, Adrenal cortex carcinoma, Craniopharyngioma, Malignant neoplasm of body of uterus, Malignant melanoma of skin, Pilomatrixoma, Hepatocellular carcinoma, Lung adenocarcinoma, Medulloblastoma, Squamous cell carcinoma of the head and neck | Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266103
- GRCh38:
- Chr3:41224612
| CTNNB1, LOC126806658 | G34R, G27R | Pilomatrixoma, Craniopharyngioma, Malignant tumor of urinary bladder
| Pathogenic/Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266104
- GRCh38:
- Chr3:41224613
| CTNNB1, LOC126806658 | G34A, G27A | Gastric adenocarcinoma, Malignant neoplasm of body of uterus, Adrenal cortex carcinoma, Malignant melanoma of skin, Hepatocellular carcinoma, Lung adenocarcinoma, Medulloblastoma, Squamous cell carcinoma of the head and neck | Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266104
- GRCh38:
- Chr3:41224613
| CTNNB1, LOC126806658 | G34E, G27E | Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Adrenal cortex carcinoma, Neoplasm of ovary, Hepatocellular carcinoma, Pilomatrixoma, Malignant melanoma of skin, Lung adenocarcinoma, Medulloblastoma, Squamous cell carcinoma of the head and neck | Pathogenic/Likely pathogenic; other (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266104
- GRCh38:
- Chr3:41224613
| CTNNB1, LOC126806658 | G34V, G27V | Melanoma, Craniopharyngioma, Adrenal cortex carcinoma, Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Hepatocellular carcinoma, Malignant melanoma of skin, Hepatoblastoma, Lung adenocarcinoma, Medulloblastoma, Malignant tumor of prostateSquamous cell carcinoma of the head and neck, ...see more | Conflicting interpretations of pathogenicity (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266105
- GRCh38:
- Chr3:41224614
| LOC126806658, CTNNB1 | | not provided | Likely benign (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266112
- GRCh38:
- Chr3:41224621
| LOC126806658, CTNNB1 | S37A, S30A | Neoplasm of the parathyroid gland, Malignant neoplasm of body of uterus, Prostate adenocarcinoma, Esophageal carcinoma, Lung adenocarcinoma, Hepatocellular carcinoma, Medulloblastoma, Neoplasm of uterine cervix, Gastric adenocarcinoma, Transitional cell carcinoma of the bladder | Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266112
- GRCh38:
- Chr3:41224621
| CTNNB1, LOC126806658 | S37P, S30P | Malignant neoplasm of body of uterus, Prostate adenocarcinoma, Neoplasm of stomach, Hepatocellular carcinoma, Lung adenocarcinoma, Medulloblastoma, Neoplasm of uterine cervix, Gastric adenocarcinoma, Transitional cell carcinoma of the bladder, Esophageal carcinoma | Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266113
- GRCh38:
- Chr3:41224622
| CTNNB1, LOC126806658 | S37Y, S30Y | Malignant neoplasm of body of uterus, Prostate adenocarcinoma, Gastric adenocarcinoma, Neoplasm of stomach, Medulloblastoma, Hepatocellular carcinoma, Lung adenocarcinoma, Melanoma, Neoplasm of uterine cervix, Transitional cell carcinoma of the bladder, Esophageal carcinoma ...see more | Pathogenic/Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266113
- GRCh38:
- Chr3:41224622
| CTNNB1, LOC126806658 | S37F, S30F | Esophageal carcinoma, Melanoma, Prostate adenocarcinoma, Neoplasm of uterine cervix, Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Pilomatrixoma, Neoplasm of ovary, Hepatocellular carcinoma, Medulloblastoma, Lung adenocarcinomaTransitional cell carcinoma of the bladder, ...see more | Pathogenic/Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266113
- GRCh38:
- Chr3:41224622
| CTNNB1, LOC126806658 | S37C, S30C | Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Medulloblastoma, Esophageal carcinoma, not provided, Neoplasm of uterine cervix, Prostate adenocarcinoma, Pilomatrixoma, Hepatocellular carcinoma, Neoplasm of ovary, Lung adenocarcinomaTransitional cell carcinoma of the bladder, ...see more | Pathogenic/Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266121
- GRCh38:
- Chr3:41224630
| CTNNB1, LOC126806658 | T40S, T33S | Neoplasm | Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266121
- GRCh38:
- Chr3:41224630
| CTNNB1, LOC126806658 | T40A, T33A | Neoplasm of stomach | Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266121
- GRCh38:
- Chr3:41224630
| LOC126806658, CTNNB1 | T40P, T33P | Neoplasm | Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266122
- GRCh38:
- Chr3:41224631
| CTNNB1, LOC126806658 | T40I, T33I | Melanoma | Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266122
- GRCh38:
- Chr3:41224631
| LOC126806658, CTNNB1 | T40S, T33S | Neoplasm | Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266124
- GRCh38:
- Chr3:41224633
| CTNNB1, LOC126806658 | T41A, T34A | Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Adrenal cortex carcinoma, Neoplasm of the large intestine, Atypical endometrial hyperplasia, Pancreatic adenocarcinoma, not provided, Malignant melanoma of skin, Hepatocellular carcinoma, Lung adenocarcinoma, HepatoblastomaDesmoid tumor caused by somatic mutation, ...see more | Pathogenic/Likely pathogenic; association; other (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266125
- GRCh38:
- Chr3:41224634
| CTNNB1, LOC126806658 | T41S, T34S | Inborn genetic diseases | Uncertain significance (Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266125
- GRCh38:
- Chr3:41224634
| CTNNB1, LOC126806658 | T41N, T34N | Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Adrenal cortex carcinoma, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Malignant melanoma of skin, Hepatocellular carcinoma, Lung adenocarcinoma | Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266125
- GRCh38:
- Chr3:41224634
| LOC126806658, CTNNB1 | T41I, T34I | Malignant neoplasm of body of uterus, Prostate adenocarcinoma, Adrenal cortex carcinoma, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Malignant melanoma of skin, Hepatocellular carcinoma, Pilomatrixoma, Lung adenocarcinoma
| Pathogenic/Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266127
- GRCh38:
- Chr3:41224636
| LOC126806658, CTNNB1 | T35A, T42A | not provided | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266128
- GRCh38:
- Chr3:41224637
| CTNNB1, LOC126806658 | T42I, T35I | Inborn genetic diseases, not provided, not specified
| Conflicting interpretations of pathogenicity (Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:41266136-41266138
- GRCh38:
- Chr3:41224643-41224645
| CTNNB1, LOC126806658 | S45del, S38del | Nephroblastoma, Carcinoma of colon | Pathogenic; other (May 1, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266135
- GRCh38:
- Chr3:41224644
| CTNNB1, LOC126806658 | S38fs, S45fs | Severe intellectual disability-progressive spastic diplegia syndrome | Pathogenic (Jan 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266136
- GRCh38:
- Chr3:41224645
| CTNNB1, LOC126806658 | S45A, S38A | Disease, Neoplasm of brain | Likely pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266136
- GRCh38:
- Chr3:41224645
| LOC126806658, CTNNB1 | S45P, S38P | Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Adrenal cortex carcinoma, Melanoma, Disease, Neoplasm of the large intestine, not provided, Malignant melanoma of skin, Hepatocellular carcinoma, Lung adenocarcinoma, Transitional cell carcinoma of the bladder ...see more | Pathogenic/Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266137
- GRCh38:
- Chr3:41224646
| CTNNB1, LOC126806658 | S45C, S38C | Prostate adenocarcinoma, Disease, Malignant neoplasm of body of uterus, Adrenal cortex carcinoma, Neoplasm of the large intestine, Malignant melanoma of skin, Hepatocellular carcinoma, Lung adenocarcinoma, Transitional cell carcinoma of the bladder
| Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266137
- GRCh38:
- Chr3:41224646
| CTNNB1, LOC126806658 | S45Y, S38Y | Prostate adenocarcinoma, Melanoma, Neoplasm of the large intestine, Malignant neoplasm of body of uterus, Adrenal cortex carcinoma, Malignant melanoma of skin, Hepatocellular carcinoma, Lung adenocarcinoma, Transitional cell carcinoma of the bladder
| Pathogenic/Likely pathogenic (May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266137
- GRCh38:
- Chr3:41224646
| LOC126806658, CTNNB1 | S45F, S38F | Adrenal cortex carcinoma, Malignant melanoma of skin, Hepatocellular carcinoma, Melanoma, Neoplasm of the large intestine, Lung adenocarcinoma, Gallbladder cancer, Disease, Prostate adenocarcinoma, Malignant neoplasm of body of uterus, NephroblastomaTransitional cell carcinoma of the bladder, ...see more | Pathogenic/Likely pathogenic; other (Oct 30, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266155
- GRCh38:
- Chr3:41224664
| CTNNB1, LOC126806658 | N44S, N51S | not provided | Uncertain significance (Feb 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:41266163
- GRCh38:
- Chr3:41224672
| CTNNB1, LOC126806658 | E47*, E54* | not provided | Pathogenic (Sep 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266166
- GRCh38:
- Chr3:41224675
| CTNNB1, LOC126806658 | E48*, E55* | Severe intellectual disability-progressive spastic diplegia syndrome | Pathogenic (Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266171
- GRCh38:
- Chr3:41224680
| CTNNB1, LOC126806658 | | not provided | Likely benign (Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266179
- GRCh38:
- Chr3:41224688
| CTNNB1, LOC126806658 | T52I, T59I | not provided | Uncertain significance (Oct 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266182
- GRCh38:
- Chr3:41224691
| CTNNB1, LOC126806658 | S53C, S60C | CTNNB1-related condition, not provided | Uncertain significance (Apr 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:41266184
- GRCh38:
- Chr3:41224693
| CTNNB1, LOC126806658 | Q54*, Q61* | not provided | Pathogenic (Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266198
- GRCh38:
- Chr3:41224707
| CTNNB1, LOC126806658 | | not provided | Likely benign (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266201
- GRCh38:
- Chr3:41224710
| LOC126806658, CTNNB1 | W66*, W59* | not provided | Pathogenic (Feb 11, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266210-41266211
- GRCh38:
- Chr3:41224719-41224720
| CTNNB1, LOC126806658 | S64fs, S71fs | not provided | Pathogenic (Sep 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266229
- GRCh38:
- Chr3:41224738
| CTNNB1, LOC126806658 | Q69E, Q76E | not provided | Uncertain significance (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266241
- GRCh38:
- Chr3:41224750
| CTNNB1, LOC126806658 | A73P, A80P | not provided | Uncertain significance (Oct 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266249
- GRCh38:
- Chr3:41224758
| CTNNB1, LOC126806658 | | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266258
- GRCh38:
- Chr3:41224767
| CTNNB1, LOC126806658 | | not provided | Benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266264
- GRCh38:
- Chr3:41224773
| CTNNB1, LOC126806658 | | not provided | Likely benign (Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266426
- GRCh38:
- Chr3:41224935
| CTNNB1, LOC126806658 | | not provided | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266437
- GRCh38:
- Chr3:41224946
| CTNNB1, LOC126806658 | | not provided | Benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266440
- GRCh38:
- Chr3:41224949
| LOC126806658, CTNNB1 | | Severe intellectual disability-progressive spastic diplegia syndrome | Likely pathogenic (Jan 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266441
- GRCh38:
- Chr3:41224950
| CTNNB1, LOC126806658 | | not provided | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266442
- GRCh38:
- Chr3:41224951
| CTNNB1, LOC126806658 | | Severe intellectual disability-progressive spastic diplegia syndrome | Pathogenic (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266443
- GRCh38:
- Chr3:41224952
| LOC126806658, CTNNB1 | | not provided | Likely pathogenic (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:41266448
- GRCh38:
- Chr3:41224957
| CTNNB1, LOC126806658 | I75T, I82T | not provided | Conflicting interpretations of pathogenicity (Jun 6, 2022) | criteria provided, conflicting interpretations |