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Items: 1 to 100 of 345

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:
Chr3:11504802-38961034
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
3.
GRCh37:
Chr3:33769898-40703942
GRCh38:
Chr3:33728406-40662451
LOC129936460, LOC129936461, LOC129936462, LOC129936463, LOC129936464, LOC129936465, LOC129936466, LOC129936467, LOC129936468, LOC129936469, LOC129936470, LOC129936471, LOC129936472, LOC129936473, LOC129936474, LOC129936475, LOC129936476, LOC129936477, LOC129936478, LOC129936479, LOC129936480, LOC129936481, LOC129936482, LOC129936483, LOC129936484, LOC129936485, LOC129936486, LOC129936487, LOC129936488, LOC129936489, LOC129936490, LOC129936491, LOC129936492, LOC129936493, LOC129936494, LOC129936495, LOC129936496, LOC129936497, LOC129936498, LOC129936499, LOC129936500, LOC129936501, LOC129936502, LOC129936503, LOC129936504, LOC129936505, LOC129936506, LOC129936507, LOC129936508, LOC129936509, LOC129936510, LOC129936511, LOC129936512, LOC129936513, LOC129936514, LOC129936515, LOC129936516, LOC129936517, LOC129936518, LOC129936519, LOC129936520, LOC129936521, LOC129936522, LOC129936523, LOC129936524, LOC129936525, LOC129936526, LOC129936527, LOC129936528, LOC129936529, LOC129936530, LRRFIP2, MIR128-2, MIR26A1, MIR6822, MLH1, MOBP, MYD88, MYRIP, OXSR1, PDCD6IP, PDCD6IP-DT, PLCD1, RPL14, RPSA, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, SLC25A38, SNORA6, SNORA62, STAC, TRANK1, TTC21A, VILL, WDR48, XIRP1, XYLB, ZNF619, ZNF620, ZNF621, ACAA1, ACVR2B, ACVR2B-AS1, APRG1, ARPP21, ARPP21-AS1, CCR8, CSRNP1, CTDSPL, CX3CR1, DCLK3, DLEC1, EIF1B, EIF1B-AS1, ENTPD3, ENTPD3-AS1, EPM2AIP1, EXOG, GOLGA4, GOLGA4-AS1, GORASP1, ITGA9, ITGA9-AS1, LINC01811, LINC02033, LOC101928135, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365149, LOC111465007, LOC112935929, LOC112935930, LOC112935933, LOC115995508, LOC115995509, LOC120285841, LOC121009656, LOC121009657, LOC121009658, LOC121725139, LOC121725140, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC122889070, LOC122889071, LOC122889072, LOC126806650, LOC126806651, LOC126806652, LOC126806653, LOC126806654, LOC129389053, LOC129389054, LOC129389055, LOC129389056, LOC129389057, LOC129389058, LOC129389059, LOC129936448, LOC129936449, LOC129936450, LOC129936451, LOC129936452, LOC129936453, LOC129936454, LOC129936455, LOC129936456, LOC129936457, LOC129936458, LOC129936459
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
4.
GRCh37:
Chr3:37493856-38991863
GRCh38:
Chr3:37452365-38950372
Brugada syndromePathogenic
(Oct 1, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr3:38495793
GRCh38:
Chr3:38454302
ACVR2B, ACVR2B-AS1, LOC129936486Heterotaxy, visceral, 4, autosomalUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr3:38495814
GRCh38:
Chr3:38454323
ACVR2B, ACVR2B-AS1, LOC129936486M1VHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr3:38495819
GRCh38:
Chr3:38454328
ACVR2B, ACVR2B-AS1, LOC129936486not providedLikely benignno assertion criteria provided
8.
GRCh37:
Chr3:38495822
GRCh38:
Chr3:38454331
ACVR2B, ACVR2B-AS1, LOC129936486Heterotaxy, visceral, 4, autosomalLikely benign
(Feb 21, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr3:38495823
GRCh38:
Chr3:38454332
ACVR2B, ACVR2B-AS1, LOC129936486P4SHeterotaxy, visceral, 4, autosomalUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr3:38495833
GRCh38:
Chr3:38454342
ACVR2B, ACVR2B-AS1, LOC129936486A7VHeterotaxy, visceral, 4, autosomalUncertain significance
(Nov 19, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr3:38495835
GRCh38:
Chr3:38454344
ACVR2B, ACVR2B-AS1, LOC129936486L8FInborn genetic diseases, Heterotaxy, visceral, 4, autosomalUncertain significance
(Jun 2, 2023)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:38495837
GRCh38:
Chr3:38454346
ACVR2B, ACVR2B-AS1, LOC129936486Heterotaxy, visceral, 4, autosomalUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr3:38495858
GRCh38:
Chr3:38454367
ACVR2B, ACVR2B-AS1, LOC129936486Heterotaxy, visceral, 4, autosomalUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr3:38495873
GRCh38:
Chr3:38454382
ACVR2B, ACVR2B-AS1, LOC129936486Heterotaxy, visceral, 4, autosomalLikely benign
(May 3, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr3:38496065
GRCh38:
Chr3:38454574
ACVR2B, ACVR2B-AS1not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr3:38518768-38674808
GRCh38:
Chr3:38477277-38633317
ACVR2B, EXOG, LOC110121269, LOC110121286, LOC110121287, LOC129936487, LOC129936488, SCN5ABrugada syndromeUncertain significance
(Aug 29, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr3:38518786
GRCh38:
Chr3:38477295
ACVR2BR21CACVR2B-related conditionUncertain significance
(Sep 21, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr3:38518787
GRCh38:
Chr3:38477296
ACVR2BR21HHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 10, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr3:38518824
GRCh38:
Chr3:38477333
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jan 22, 2020)
criteria provided, single submitter
20.
GRCh37:
Chr3:38518825
GRCh38:
Chr3:38477334
ACVR2BA34THeterotaxy, visceral, 4, autosomalUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr3:38518837
GRCh38:
Chr3:38477346
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Dec 24, 2020)
criteria provided, single submitter
22.
GRCh37:
Chr3:38518844
GRCh38:
Chr3:38477353
ACVR2BR40Hnot specified, Heterotaxy, visceral, 4, autosomalBenign/Likely benign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:38518868
GRCh38:
Chr3:38477377
ACVR2BR48LHeterotaxy, visceral, 4, autosomalUncertain significance
(Nov 7, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr3:38518872
GRCh38:
Chr3:38477381
ACVR2Bnot provided, Heterotaxy, visceral, 4, autosomalBenign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr3:38518873
GRCh38:
Chr3:38477382
ACVR2BE50KHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr3:38518902
GRCh38:
Chr3:38477411
ACVR2Bnot providedLikely benign
(Jan 2, 2019)
criteria provided, single submitter
27.
GRCh37:
Chr3:38518935
GRCh38:
Chr3:38477444
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Aug 7, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr3:38518968
GRCh38:
Chr3:38477477
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Sep 27, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr3:38518986
GRCh38:
Chr3:38477495
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Jul 24, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr3:38518992
GRCh38:
Chr3:38477501
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr3:38518995
GRCh38:
Chr3:38477504
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jan 29, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr3:38518997
GRCh38:
Chr3:38477506
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(May 25, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr3:38519344
GRCh38:
Chr3:38477853
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Aug 13, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr3:38519374
GRCh38:
Chr3:38477883
ACVR2BE95QHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr3:38519424
GRCh38:
Chr3:38477933
ACVR2BHeterotaxy, visceral, 4, autosomal, not provided, not specified
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr3:38519434
GRCh38:
Chr3:38477943
ACVR2BH115YHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr3:38519442
GRCh38:
Chr3:38477951
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jul 26, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr3:38519456
GRCh38:
Chr3:38477965
ACVR2BP122LInborn genetic diseasesUncertain significance
(Apr 20, 2023)
criteria provided, single submitter
39.
GRCh37:
Chr3:38519457
GRCh38:
Chr3:38477966
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Nov 2, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr3:38519475
GRCh38:
Chr3:38477984
ACVR2BHeterotaxy, visceral, 4, autosomalBenign
(Aug 20, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr3:38519481
GRCh38:
Chr3:38477990
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Mar 6, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr3:38519623
GRCh38:
Chr3:38478132
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jun 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr3:38519644
GRCh38:
Chr3:38478153
ACVR2BP128RInborn genetic diseasesUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr3:38519667
GRCh38:
Chr3:38478176
ACVR2BL136FHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr3:38519671
GRCh38:
Chr3:38478180
ACVR2BT137MHeterotaxy, visceral, 4, autosomalUncertain significance
(Oct 20, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr3:38519740
GRCh38:
Chr3:38478249
ACVR2BY160FHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr3:38519742
GRCh38:
Chr3:38478251
ACVR2BR161WHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr3:38519743
GRCh38:
Chr3:38478252
ACVR2BR161QHeterotaxy, visceral, 4, autosomalLikely benign
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr3:38519870
GRCh38:
Chr3:38478379
ACVR2BP176RHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr3:38519885
GRCh38:
Chr3:38478394
ACVR2BP181LHeterotaxy, visceral, 4, autosomalUncertain significance
(Oct 21, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr3:38519889
GRCh38:
Chr3:38478398
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr3:38519896
GRCh38:
Chr3:38478405
ACVR2BV185LHeterotaxy, visceral, 4, autosomalUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr3:38519896
GRCh38:
Chr3:38478405
ACVR2BV185LHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr3:38519995
GRCh38:
Chr3:38478504
ACVR2BI218FHeterotaxy, visceral, 4, autosomalUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr3:38520014
GRCh38:
Chr3:38478523
ACVR2Bnot specified, not provided, Heterotaxy, visceral, 4, autosomal
Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr3:38520019
GRCh38:
Chr3:38478528
ACVR2Bnot providedLikely benign
(Oct 16, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr3:38520610
GRCh38:
Chr3:38479119
ACVR2BHeterotaxy, visceral, 4, autosomalBenign
(Nov 17, 2020)
criteria provided, single submitter
58.
GRCh37:
Chr3:38520654
GRCh38:
Chr3:38479163
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Oct 13, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr3:38520690
GRCh38:
Chr3:38479199
ACVR2BQ246HACVR2B-related conditionUncertain significance
(Nov 21, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr3:38520723
GRCh38:
Chr3:38479232
ACVR2BHeterotaxy, visceral, 4, autosomalBenign
(Jul 12, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr3:38520727
GRCh38:
Chr3:38479236
ACVR2BV259LHeterotaxy, visceral, 4, autosomalUncertain significance
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr3:38521001
GRCh38:
Chr3:38479510
ACVR2Bnot providedBenign
(Nov 10, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr3:38521096
GRCh38:
Chr3:38479605
ACVR2Bnot providedBenign
(Jun 18, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr3:38521156
GRCh38:
Chr3:38479665
ACVR2Bnot specified, Heterotaxy, visceral, 4, autosomal, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr3:38521157
GRCh38:
Chr3:38479666
ACVR2Bnot specified, Heterotaxy, visceral, 4, autosomalBenign/Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr3:38521166
GRCh38:
Chr3:38479675
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr3:38521207
GRCh38:
Chr3:38479716
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr3:38521237
GRCh38:
Chr3:38479746
ACVR2Bnot providedLikely benign
(Sep 29, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr3:38521283
GRCh38:
Chr3:38479792
ACVR2BR309CHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr3:38521284
GRCh38:
Chr3:38479793
ACVR2BR309HHeterotaxy, visceral, 4, autosomal, Inborn genetic diseasesUncertain significance
(Jan 6, 2023)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr3:38521288
GRCh38:
Chr3:38479797
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr3:38521425
GRCh38:
Chr3:38479934
ACVR2Bnot providedBenign
(Nov 10, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr3:38522770
GRCh38:
Chr3:38481279
ACVR2Bnot providedBenign
(Jun 18, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr3:38522823
GRCh38:
Chr3:38481332
ACVR2BHeterotaxy, visceral, 4, autosomal, not specifiedLikely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr3:38522839
GRCh38:
Chr3:38481348
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr3:38522861
GRCh38:
Chr3:38481370
ACVR2BV327IInborn genetic diseases, Heterotaxy, visceral, 4, autosomalUncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr3:38522875
GRCh38:
Chr3:38481384
ACVR2Bnot provided, not specified, Heterotaxy, visceral, 4, autosomal
Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr3:38522950
GRCh38:
Chr3:38481459
ACVR2Bnot providedLikely benign
(Nov 6, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr3:38523495
GRCh38:
Chr3:38482004
ACVR2Bnot providedBenign
(Nov 10, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr3:38523684
GRCh38:
Chr3:38482193
ACVR2Bnot specified, Heterotaxy, visceral, 4, autosomalBenign/Likely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:38523715
GRCh38:
Chr3:38482224
ACVR2Bnot providedLikely benign
(Aug 1, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr3:38523754
GRCh38:
Chr3:38482263
ACVR2BHeterotaxy, visceral, 4, autosomalBenign
(Mar 21, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr3:38523761
GRCh38:
Chr3:38482270
ACVR2BR383CHeterotaxy, visceral, 4, autosomalLikely pathogenic
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr3:38523762
GRCh38:
Chr3:38482271
ACVR2BR383HHeterotaxy, visceral, 4, autosomalUncertain significance
(Mar 18, 2020)
criteria provided, single submitter
85.
GRCh37:
Chr3:38523765
GRCh38:
Chr3:38482274
ACVR2BI384THeterotaxy, visceral, 4, autosomalUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr3:38523770
GRCh38:
Chr3:38482279
ACVR2BM386LHeterotaxy, visceral, 4, autosomalUncertain significance
(Aug 13, 2021)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr3:38523793
GRCh38:
Chr3:38482302
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jul 30, 2020)
criteria provided, single submitter
88.
GRCh37:
Chr3:38523800
GRCh38:
Chr3:38482309
ACVR2BL396VHeterotaxy, visceral, 4, autosomal, Inborn genetic diseasesUncertain significance
(Mar 14, 2023)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr3:38523809
GRCh38:
Chr3:38482318
ACVR2BR399GHeterotaxy, visceral, 4, autosomalUncertain significance
(Mar 3, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:38523823
GRCh38:
Chr3:38482332
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Jan 17, 2019)
criteria provided, single submitter
91.
GRCh37:
Chr3:38523841
GRCh38:
Chr3:38482350
ACVR2BHeterotaxy, visceral, 4, autosomalUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr3:38523926
GRCh38:
Chr3:38482435
ACVR2BV407MHeterotaxy, visceral, 4, autosomalUncertain significance
(Jun 5, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr3:38523959
GRCh38:
Chr3:38482468
ACVR2BI418FInborn genetic diseasesUncertain significance
(Mar 1, 2023)
criteria provided, single submitter
94.
GRCh37:
Chr3:38523976
GRCh38:
Chr3:38482485
ACVR2BHeterotaxy, visceral, 4, autosomal, not providedConflicting interpretations of pathogenicity
(Jun 1, 2022)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr3:38523994
GRCh38:
Chr3:38482503
ACVR2BHeterotaxy, visceral, 4, autosomalLikely benign
(Apr 10, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr3:38524058
GRCh38:
Chr3:38482567
ACVR2Bnot specified, Heterotaxy, visceral, 4, autosomalBenign
(Oct 22, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr3:38524086
GRCh38:
Chr3:38482595
ACVR2Bnot providedBenign
(Jun 18, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr3:38524194
GRCh38:
Chr3:38482703
ACVR2Bnot providedBenign
(Nov 10, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr3:38524311
GRCh38:
Chr3:38482820
ACVR2Bnot providedBenign
(Nov 10, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr3:38524328
GRCh38:
Chr3:38482837
ACVR2Bnot providedBenign
(Jun 18, 2021)
criteria provided, single submitter
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