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Items: 1 to 100 of 624

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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
2.
GRCh37:
Chr3:41265233
GRCh38:
Chr3:41223742
CTNNB1not providedLikely benign
(Jul 26, 2018)
criteria provided, single submitter
3.
GRCh37:
Chr3:41265329
GRCh38:
Chr3:41223838
CTNNB1not providedLikely benign
(Sep 2, 2019)
criteria provided, single submitter
4.
GRCh37:
Chr3:41265503
GRCh38:
Chr3:41224012
CTNNB1not providedLikely benign
(Jul 11, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr3:41265560
GRCh38:
Chr3:41224069
CTNNB1M1VCTNNB1-related syndromic intellectual disabilityUncertain significance
(Jan 15, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr3:41265564
GRCh38:
Chr3:41224073
CTNNB1A2Gnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr3:41265583
GRCh38:
Chr3:41224092
CTNNB1not providedLikely benign
(Mar 19, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr3:41265592
GRCh38:
Chr3:41224101
CTNNB1not providedLikely benign
(Oct 26, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr3:41265999
GRCh38:
Chr3:41224508
CTNNB1, LOC126806658not providedLikely benign
(Feb 3, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr3:41266006
GRCh38:
Chr3:41224515
CTNNB1, LOC126806658not providedLikely benign
(Apr 7, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr3:41266007
GRCh38:
Chr3:41224516
CTNNB1, LOC126806658not providedLikely benign
(Feb 6, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:41266010-41266011
GRCh38:
Chr3:41224519-41224520
CTNNB1, LOC126806658not providedLikely benign
(Jun 21, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr3:41266013
GRCh38:
Chr3:41224522
CTNNB1, LOC126806658Neoplasm 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
14.
GRCh37:
Chr3:41266017
GRCh38:
Chr3:41224526
CTNNB1, LOC126806658A5Gnot providedUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr3:41266018
GRCh38:
Chr3:41224527
CTNNB1, LOC126806658not providedLikely benign
(Apr 29, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr3:41266026
GRCh38:
Chr3:41224535
CTNNB1, LOC126806658M8T, M1TIntellectual disabilityLikely benign
(Jan 1, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr3:41266030
GRCh38:
Chr3:41224539
CTNNB1, LOC126806658E9D, E2Dnot providedUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr3:41266030
GRCh38:
Chr3:41224539
CTNNB1, LOC126806658not providedLikely benign
(May 14, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr3:41266040
GRCh38:
Chr3:41224549
CTNNB1, LOC126806658A13T, A6TMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
20.
GRCh37:
Chr3:41266043
GRCh38:
Chr3:41224552
CTNNB1, LOC126806658M14V, M7Vnot providedUncertain significance
(Mar 1, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr3:41266044
GRCh38:
Chr3:41224553
CTNNB1, LOC126806658M14T, M7Tnot providedUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr3:41266046
GRCh38:
Chr3:41224555
CTNNB1, LOC126806658E15K, E8KSevere intellectual disability-progressive spastic diplegia syndromeUncertain significance
(Dec 12, 2018)
no assertion criteria provided
23.
GRCh37:
Chr3:41266048
GRCh38:
Chr3:41224557
LOC126806658, CTNNB1E15D, E8Dnot specifiednot provided
(Sep 19, 2013)
no assertion provided
24.
GRCh37:
Chr3:41266062
GRCh38:
Chr3:41224571
CTNNB1, LOC126806658A20V, A13Vnot provided, CTNNB1-related conditionUncertain significance
(Dec 13, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr3:41266063
GRCh38:
Chr3:41224572
CTNNB1, LOC126806658not providedLikely benign
(Jul 11, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr3:41266064
GRCh38:
Chr3:41224573
CTNNB1, LOC126806658A21T, A14TMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
27.
GRCh37:
Chr3:41266066-41266116
GRCh38:
Chr3:41224575-41224625
CTNNB1, LOC126806658MelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
28.
GRCh37:
Chr3:41266068
GRCh38:
Chr3:41224577
CTNNB1, LOC126806658V22A, V15AMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
29.
GRCh37:
Chr3:41266069-41266070
GRCh38:
Chr3:41224578-41224579
CTNNB1, LOC126806658S16fs, S23fsnot providedPathogenic
(Jan 24, 2020)
criteria provided, single submitter
30.
GRCh37:
Chr3:41266070
GRCh38:
Chr3:41224579
CTNNB1, LOC126806658S16G, S23Gnot providedUncertain significance
(Oct 1, 2023)
criteria provided, single submitter
31.
GRCh37:
Chr3:41266074
GRCh38:
Chr3:41224583
CTNNB1, LOC126806658H17L, H24Lnot providedUncertain significance
(Apr 3, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr3:41266074-41266097
GRCh38:
Chr3:41224583-41224606
CTNNB1, LOC126806658MelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
33.
GRCh37:
Chr3:41266082-41266083
GRCh38:
Chr3:41224591-41224592
CTNNB1, LOC126806658Q21fs, Q28fsSevere intellectual disability-progressive spastic diplegia syndromePathogenicno assertion criteria provided
34.
GRCh37:
Chr3:41266084
GRCh38:
Chr3:41224593
CTNNB1, LOC126806658not providedLikely benign
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr3:41266086-41266097
GRCh38:
Chr3:41224595-41224606
CTNNB1, LOC126806658Hepatoblastomaother
(May 1, 2016)
no assertion criteria provided
36.
GRCh37:
Chr3:41266087
GRCh38:
Chr3:41224596
CTNNB1, LOC126806658Q21H, Q28Hnot providedUncertain significance
(Mar 28, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:41266089
GRCh38:
Chr3:41224598
CTNNB1, LOC126806658S22C, S29Cnot providedUncertain significance
(Jun 1, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr3:41266097
GRCh38:
Chr3:41224606
CTNNB1, LOC126806658D32N, D25NJuvenile nasopharyngeal angiofibromaPathogenic
(Jul 30, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr3:41266097
GRCh38:
Chr3:41224606
CTNNB1, LOC126806658D32H, D25HNeoplasm 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
40.
GRCh37:
Chr3:41266097
GRCh38:
Chr3:41224606
CTNNB1, LOC126806658D32Y, D25YGastric 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
41.
GRCh37:
Chr3:41266098
GRCh38:
Chr3:41224607
LOC126806658, CTNNB1D32V, D25VProstate 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
42.
GRCh37:
Chr3:41266098
GRCh38:
Chr3:41224607
CTNNB1, LOC126806658D32A, D25ANeoplasm 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
43.
GRCh37:
Chr3:41266098
GRCh38:
Chr3:41224607
CTNNB1, LOC126806658D32G, D25GMalignant 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
44.
GRCh37:
Chr3:41266100
GRCh38:
Chr3:41224609
CTNNB1, LOC126806658S33T, S26TNeoplasm 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
45.
GRCh37:
Chr3:41266100
GRCh38:
Chr3:41224609
CTNNB1, LOC126806658S33A, S26ANeoplasm 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
46.
GRCh37:
Chr3:41266100
GRCh38:
Chr3:41224609
LOC126806658, CTNNB1S33P, S26PMalignant 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
47.
GRCh37:
Chr3:41266101
GRCh38:
Chr3:41224610
CTNNB1, LOC126806658S33C, S26CNeoplasm 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
48.
GRCh37:
Chr3:41266101
GRCh38:
Chr3:41224610
CTNNB1, LOC126806658S33F, S26FADRENAL 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
49.
GRCh37:
Chr3:41266101
GRCh38:
Chr3:41224610
CTNNB1, LOC126806658S33Y, S26YEndometrial 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
50.
GRCh37:
Chr3:41266103
GRCh38:
Chr3:41224612
CTNNB1, LOC126806658G34R, G27RGastric 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
51.
GRCh37:
Chr3:41266103
GRCh38:
Chr3:41224612
CTNNB1, LOC126806658G34R, G27RPilomatrixoma, Craniopharyngioma, Malignant tumor of urinary bladder
Pathogenic/Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
52.
GRCh37:
Chr3:41266104
GRCh38:
Chr3:41224613
CTNNB1, LOC126806658G34A, G27AGastric 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
53.
GRCh37:
Chr3:41266104
GRCh38:
Chr3:41224613
CTNNB1, LOC126806658G34E, G27EMalignant 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
54.
GRCh37:
Chr3:41266104
GRCh38:
Chr3:41224613
CTNNB1, LOC126806658G34V, G27VMelanoma, 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
55.
GRCh37:
Chr3:41266105
GRCh38:
Chr3:41224614
LOC126806658, CTNNB1not providedLikely benign
(Feb 4, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr3:41266112
GRCh38:
Chr3:41224621
LOC126806658, CTNNB1S37A, S30ANeoplasm 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
57.
GRCh37:
Chr3:41266112
GRCh38:
Chr3:41224621
CTNNB1, LOC126806658S37P, S30PMalignant 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
58.
GRCh37:
Chr3:41266113
GRCh38:
Chr3:41224622
CTNNB1, LOC126806658S37Y, S30YMalignant 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
59.
GRCh37:
Chr3:41266113
GRCh38:
Chr3:41224622
CTNNB1, LOC126806658S37F, S30FEsophageal 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
60.
GRCh37:
Chr3:41266113
GRCh38:
Chr3:41224622
CTNNB1, LOC126806658S37C, S30CMalignant 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
61.
GRCh37:
Chr3:41266121
GRCh38:
Chr3:41224630
CTNNB1, LOC126806658T40S, T33SNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
62.
GRCh37:
Chr3:41266121
GRCh38:
Chr3:41224630
CTNNB1, LOC126806658T40A, T33ANeoplasm of stomachLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
63.
GRCh37:
Chr3:41266121
GRCh38:
Chr3:41224630
LOC126806658, CTNNB1T40P, T33PNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
64.
GRCh37:
Chr3:41266122
GRCh38:
Chr3:41224631
CTNNB1, LOC126806658T40I, T33IMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
65.
GRCh37:
Chr3:41266122
GRCh38:
Chr3:41224631
LOC126806658, CTNNB1T40S, T33SNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
66.
GRCh37:
Chr3:41266124
GRCh38:
Chr3:41224633
CTNNB1, LOC126806658T41A, T34AProstate 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
67.
GRCh37:
Chr3:41266125
GRCh38:
Chr3:41224634
CTNNB1, LOC126806658T41S, T34SInborn genetic diseasesUncertain significance
(Jun 3, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr3:41266125
GRCh38:
Chr3:41224634
CTNNB1, LOC126806658T41N, T34NProstate 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
69.
GRCh37:
Chr3:41266125
GRCh38:
Chr3:41224634
LOC126806658, CTNNB1T41I, T34IMalignant 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
70.
GRCh37:
Chr3:41266127
GRCh38:
Chr3:41224636
LOC126806658, CTNNB1T35A, T42Anot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr3:41266128
GRCh38:
Chr3:41224637
CTNNB1, LOC126806658T42I, T35IInborn genetic diseases, not provided, not specified
Conflicting interpretations of pathogenicity
(Sep 19, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr3:41266136-41266138
GRCh38:
Chr3:41224643-41224645
CTNNB1, LOC126806658S45del, S38delNephroblastoma, Carcinoma of colonPathogenic; other
(May 1, 2016)
no assertion criteria provided
73.
GRCh37:
Chr3:41266135
GRCh38:
Chr3:41224644
CTNNB1, LOC126806658S38fs, S45fsSevere intellectual disability-progressive spastic diplegia syndromePathogenic
(Jan 18, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr3:41266136
GRCh38:
Chr3:41224645
CTNNB1, LOC126806658S45A, S38ADisease, Neoplasm of brainLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
75.
GRCh37:
Chr3:41266136
GRCh38:
Chr3:41224645
LOC126806658, CTNNB1S45P, S38PProstate 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
76.
GRCh37:
Chr3:41266137
GRCh38:
Chr3:41224646
CTNNB1, LOC126806658S45C, S38CProstate 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
77.
GRCh37:
Chr3:41266137
GRCh38:
Chr3:41224646
CTNNB1, LOC126806658S45Y, S38YProstate 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
78.
GRCh37:
Chr3:41266137
GRCh38:
Chr3:41224646
LOC126806658, CTNNB1S45F, S38FAdrenal 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
79.
GRCh37:
Chr3:41266155
GRCh38:
Chr3:41224664
CTNNB1, LOC126806658N44S, N51Snot providedUncertain significance
(Feb 17, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr3:41266163
GRCh38:
Chr3:41224672
CTNNB1, LOC126806658E47*, E54*not providedPathogenic
(Sep 25, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr3:41266166
GRCh38:
Chr3:41224675
CTNNB1, LOC126806658E48*, E55*Severe intellectual disability-progressive spastic diplegia syndromePathogenic
(Oct 2, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr3:41266171
GRCh38:
Chr3:41224680
CTNNB1, LOC126806658not providedLikely benign
(Jun 25, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr3:41266179
GRCh38:
Chr3:41224688
CTNNB1, LOC126806658T52I, T59Inot providedUncertain significance
(Oct 17, 2023)
criteria provided, single submitter
84.
GRCh37:
Chr3:41266182
GRCh38:
Chr3:41224691
CTNNB1, LOC126806658S53C, S60CCTNNB1-related condition, not providedUncertain significance
(Apr 28, 2023)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr3:41266184
GRCh38:
Chr3:41224693
CTNNB1, LOC126806658Q54*, Q61*not providedPathogenic
(Oct 20, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr3:41266198
GRCh38:
Chr3:41224707
CTNNB1, LOC126806658not providedLikely benign
(May 25, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr3:41266201
GRCh38:
Chr3:41224710
LOC126806658, CTNNB1W66*, W59*not providedPathogenic
(Feb 11, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr3:41266210-41266211
GRCh38:
Chr3:41224719-41224720
CTNNB1, LOC126806658S64fs, S71fsnot providedPathogenic
(Sep 23, 2020)
criteria provided, single submitter
89.
GRCh37:
Chr3:41266229
GRCh38:
Chr3:41224738
CTNNB1, LOC126806658Q69E, Q76Enot providedUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:41266241
GRCh38:
Chr3:41224750
CTNNB1, LOC126806658A73P, A80Pnot providedUncertain significance
(Oct 1, 2019)
criteria provided, single submitter
91.
GRCh37:
Chr3:41266249
GRCh38:
Chr3:41224758
CTNNB1, LOC126806658not providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr3:41266258
GRCh38:
Chr3:41224767
CTNNB1, LOC126806658not providedBenign
(Sep 1, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr3:41266264
GRCh38:
Chr3:41224773
CTNNB1, LOC126806658not providedLikely benign
(Sep 17, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr3:41266426
GRCh38:
Chr3:41224935
CTNNB1, LOC126806658not providedLikely benign
(Jul 6, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr3:41266437
GRCh38:
Chr3:41224946
CTNNB1, LOC126806658not providedBenign
(Aug 9, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr3:41266440
GRCh38:
Chr3:41224949
LOC126806658, CTNNB1Severe intellectual disability-progressive spastic diplegia syndromeLikely pathogenic
(Jan 19, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr3:41266441
GRCh38:
Chr3:41224950
CTNNB1, LOC126806658not providedLikely benign
(Aug 19, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr3:41266442
GRCh38:
Chr3:41224951
CTNNB1, LOC126806658Severe intellectual disability-progressive spastic diplegia syndromePathogenic
(Feb 2, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr3:41266443
GRCh38:
Chr3:41224952
LOC126806658, CTNNB1not providedLikely pathogenic
(Oct 14, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr3:41266448
GRCh38:
Chr3:41224957
CTNNB1, LOC126806658I75T, I82Tnot providedConflicting interpretations of pathogenicity
(Jun 6, 2022)
criteria provided, conflicting interpretations
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