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Items: 1 to 100 of 817

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:187113113-224487119
GRCh38:
Chr1:187143981-224299417
LOC129932244, LOC129932245, LOC129932246, LOC129932247, LOC129932248, LOC129932249, LOC129932250, LOC129932251, LOC129932252, LOC129932253, LOC129932254, LOC129932255, LOC129932256, LOC129932257, LOC129932258, LOC129932259, LOC129932260, LOC129932261, LOC129932262, LOC129932263, LOC129932264, LOC129932265, LOC129932266, LOC129932267, LOC129932268, LOC129932269, LOC129932270, LOC129932271, LOC129932272, LOC129932273, LOC129932274, LOC129932275, LOC129932276, LOC129932277, LOC129932278, LOC129932279, LOC129932280, LOC129932281, LOC129932282, LOC129932283, LOC129932284, LOC129932285, LOC129932286, LOC129932287, LOC129932288, LOC129932289, LOC129932290, LOC129932291, LOC129932292, LOC129932293, LOC129932294, LOC129932295, LOC129932296, LOC129932297, LOC129932298, LOC129932299, LOC129932300, LOC129932301, LOC129932302, LOC129932303, LOC129932304, LOC129932305, LOC129932306, LOC129932307, LOC129932308, LOC129932309, LOC129932310, LOC129932311, LOC129932312, LOC129932313, LOC129932314, LOC129932315, LOC129932316, LOC129932317, LOC129932318, LOC129932319, LOC129932320, LOC129932321, LOC129932322, LOC129932323, LOC129932324, LOC129932325, LOC129932326, LOC129932327, LOC129932328, LOC129932329, LOC129932330, LOC129932331, LOC129932332, LOC129932333, LOC129932334, LOC129932335, LOC129932336, LOC129932337, LOC129932338, LOC129932339, LOC129932340, LOC129932341, LOC129932342, LOC129932343, LOC129932344, LOC129932345, LOC129932346, LOC129932347, LOC129932348, LOC129932349, LOC129932350, LOC129932351, LOC129932352, LOC129932353, LOC129932354, LOC129932355, LOC129932356, LOC129932357, LOC129932358, LOC129932359, LOC129932360, LOC129932361, LOC129932362, LOC129932363, LOC129932364, LOC129932365, LOC129932366, LOC129932367, LOC129932368, LOC129932369, LOC129932370, LOC129932371, LOC129932372, LOC129932373, LOC129932374, LOC129932375, LOC129932376, LOC129932377, LOC129932378, LOC129932379, LOC129932380, LOC129932381, LOC129932382, LOC129932383, LOC129932384, LOC129932385, LOC129932386, LOC129932387, LOC129932388, LOC129932389, LOC129932390, LOC129932391, LOC129932392, LOC129932393, LOC129932394, LOC129932395, LOC129932396, LOC129932397, LOC129932398, LOC129932399, LOC129932400, LOC129932401, LOC129932402, LOC129932403, LOC129932404, LOC129932405, LOC129932406, LOC129932407, LOC129932408, LOC129932409, LOC129932410, LOC129932411, LOC129932412, LOC129932413, LOC129932414, LOC129932415, LOC129932416, LOC129932417, LOC129932418, LOC129932419, LOC129932420, LOC129932421, LOC129932422, LOC129932423, LOC129932424, LOC129932425, LOC129932426, LOC129932427, LOC129932428, LOC129932429, LOC129932430, LOC129932431, LOC129932432, LOC129932433, LOC129932434, LOC129932435, LOC129932436, LOC129932437, LOC129932438, LOC129932439, LOC129932440, LOC129932441, LOC129932442, LOC129932443, LOC129932444, LOC129932445, LOC129932446, LOC129932447, LOC129932448, LOC129932449, LOC129932450, LOC129932451, LOC129932452, LOC129932453, LOC129932454, LOC129932455, LOC129932456, LOC129932457, LOC129932458, LOC129932459, LOC129932460, LOC129932461, LOC129932462, LOC129932463, LOC129932464, LOC129932465, LOC129932466, LOC129932467, LOC129932468, LOC129932469, LOC129932470, LOC129932471, LOC129932472, LOC129932473, LOC129932474, LOC129932475, LOC129932476, LOC129932477, LOC129932478, LOC129932479, LOC129932480, LOC129932481, LOC129932482, LOC129932483, LOC129932484, LOC129932485, LOC129932486, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC129932492, LOC129932493, LOC129932494, LOC129932495, LOC129932496, LOC129932497, LOC129932498, LOC129932499, LOC129932500, LOC129932501, LOC129932502, LOC129932503, LOC129932504, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC129932556, LOC129932557, LOC129932558, LOC129932559, LOC129932560, LOC129932561, LOC129932562, LOC129932563, LOC129932564, LOC129932565, LOC129932566, LOC129932567, LOC129932568, LOC129932569, LOC129932570, LOC129932571, LOC129932572, LOC129932573, LOC129932574, LOC129932575, LOC129932576, LOC129932577, LOC129932578, LOC129932579, LOC129932580, LOC129932581, LOC129932582, LOC129932583, LOC129932584, LOC132088601, LOC132088602, LOC132088616, LOC132088617, LOC132088618, LOC132088619, LOC132088620, LOC132088621, LOC132088622, LOC132088623, LOC132088627, LOC132088628, LOC132088629, LOC132088630, LOC132088631, LOC132088632, LOC132088633, LOC132088634, LOC132088635, LOC132088636, LOC132088637, LOC132088638, LOC132088639, LOC132088640, LOC132088641, LOC132088644, LOC132088646, LOC132088647, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088659, LOC132088660, LOC132088661, LOC132088662, LOC132088663, LOC132088664, LOC132088666, LOC132088667, LOC132090670, LOC132090671, LOC132090672, LOC132090673, LOC132090674, LOC132090675, LOC132090676, LOC132205953, LOC148696, LPGAT1, LPGAT1-AS1, LRRN2, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, MAPKAPK2, MARK1, MDM4, MFSD4A, MFSD4A-AS1, MIA3, MIR1231, MIR1278, MIR135B, MIR181A1, MIR181A1HG, MIR181B1, MIR194-1, MIR205, MIR205HG, MIR215, MIR29B2, MIR29B2CHG, MIR29C, MIR3122, MIR320B2, MIR4260, MIR4426, MIR4735, MIR5191, MIR664A, MIR6739, MIR6740, MIR6769B, MTARC1, MTARC2, MYBPH, MYOG, MYOPARR, NAV1, NEK2, NEK2-DT, NEK7, NENF, NFASC, NR5A2, NSL1, NTRAS, NUAK2, NUCKS1, NVL, OPTC, PACC1, PCAT6, PFKFB2, PHLDA3, PIGR, PIK3C2B, PKP1, PLEKHA6, PLXNA2, PM20D1, PM20D1-AS1, PPFIA4, PPP1R12B, PPP1R15B, PPP2R5A, PRELP, PROX1, PROX1-AS1, PTPN14, PTPN7, PTPRC, RAB29, RAB3GAP2, RAB7B, RABIF, RASSF5, RBBP5, RCOR3, RD3, REN, RGS1, RGS13, RGS18, RGS2, RGS2-AS1, RGS21, RHEX, RNPEP, RO60, RPS6KC1, RRP15, SCARNA18B, SERTAD4, SERTAD4-AS1, SHISA4, SLC26A9, SLC26A9-AS1, SLC30A1, SLC30A10, SLC41A1, SLC45A3, SMYD2, SNORA16B, SNORA36B, SNORA70H, SNORA77, SNRPE, SOX13, SPATA17, SPATA17-AS1, SPATA45, SRGAP2, SUSD4, SYT14, SYT2, ERLNC1, ESRRG, ETNK2, F13B, FAM177B, FAM72A, FBXO28, FCAMR, FCMR, FLVCR1, FLVCR1-DT, FMOD, G0S2, GARIN4, GLRX2, GOLT1A, GPATCH2, GPR25, GPR37L1, HHAT, HHIPL2, HLX, HLX-AS1, HSD11B1, HSD11B1-AS1, IARS2, IGFN1, IKBKE, IKBKE-AS1, IL10, IL19, IL20, IL24, INAVA, INTS7, IPO9, IPO9-AS1, IRF6, KCNH1, KCNH1-IT1, KCNK2, KCNT2, KCTD3, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAMB3, LAX1, LEMD1, LEMD1-AS1, LEMD1-DT, LGR6, LHX9, LINC00210, LINC00260, LINC00303, LINC00467, LINC00538, LINC00628, LINC00862, LINC01031, LINC01035, LINC01036, LINC01037, LINC01221, LINC01222, LINC01352, LINC01353, LINC01653, LINC01655, LINC01680, LINC01696, LINC01698, LINC01710, LINC01717, LINC01720, LINC01724, LINC01740, LINC01774, LINC02257, LINC02474, LINC02602, LINC02608, LINC02767, LINC02769, LINC02770, LINC02771, LINC02773, LINC02779, LINC02789, LINC02817, LINC02869, LINC02942, LMOD1, LOC101927143, LOC101927164, LOC101929305, LOC103021295, LOC107325941, LOC107325942, LOC107548112, LOC107988045, LOC108281163, LOC108281185, LOC110120610, LOC110120807, LOC110121042, LOC110121056, LOC110121057, LOC110121081, LOC110121257, LOC110121306, LOC111365207, LOC111429603, LOC111429604, LOC111429612, LOC111556116, LOC111721704, LOC112577523, LOC112577526, LOC112577527, LOC112577528, LOC112577529, LOC112577530, LOC112577531, LOC112577532, LOC112577533, LOC112577534, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC113939983, LOC113939984, LOC114827844, LOC115804237, LOC115804238, LOC115804239, LOC115804240, LOC115804242, LOC115804243, LOC115804244, LOC115804245, LOC115804246, LOC120807609, LOC120807610, LOC120893169, LOC120893170, LOC120893171, LOC120893172, LOC120893173, LOC120893174, LOC120893175, LOC120893176, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC121725067, LOC121725068, LOC121725069, LOC121725070, LOC121725071, LOC121725072, LOC121725073, LOC121725074, LOC122094914, LOC122128411, LOC122149331, LOC122149332, LOC122149333, LOC122149334, LOC122149335, LOC122149336, LOC122149337, LOC122149338, LOC122149339, LOC122149340, LOC122149341, LOC122149342, LOC122149343, LOC122149344, LOC122149345, LOC122149346, LOC122149347, LOC122149348, LOC122149349, LOC122149350, LOC122149351, LOC122149352, LOC122149353, LOC122149354, LOC122149355, LOC122149356, LOC122149357, LOC122149358, LOC122149359, LOC122149360, LOC122149361, LOC122149362, LOC122149487, LOC122149488, LOC122149489, LOC122149490, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC124904584, LOC126805957, LOC126805958, LOC126805959, LOC126805960, LOC126805961, LOC126805962, LOC126805963, LOC126805964, LOC126805965, LOC126805966, LOC126805967, LOC126805968, LOC126805969, LOC126805970, LOC126805971, LOC126805972, LOC126805973, LOC126805974, LOC126805975, LOC126805976, LOC126805977, LOC126805978, LOC126805979, LOC126805980, LOC126805981, LOC126805982, LOC126805983, LOC126805984, LOC126805985, LOC126805986, LOC126805987, LOC126805988, LOC126805989, LOC126805990, LOC126805991, LOC126805992, LOC126805993, LOC126805994, LOC126805995, LOC126805996, LOC126805997, LOC126805998, LOC126805999, LOC126806000, LOC126806001, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC128031836, LOC128462409, LOC128462410, LOC128772232, LOC128772233, LOC128772234, LOC128772235, LOC128772236, LOC128772237, LOC128772238, LOC128772239, LOC128781582, LOC128781583, LOC129388669, LOC129388670, LOC129388671, LOC129388672, LOC129388673, LOC129388674, LOC129388675, LOC129388676, LOC129388677, LOC129388678, LOC129388679, LOC129388680, LOC129388681, LOC129388682, LOC129388683, LOC129388684, LOC129388685, LOC129388686, LOC129388687, LOC129388688, LOC129388689, LOC129388690, LOC129388691, LOC129388692, LOC129388693, LOC129388694, LOC129388695, LOC129388696, LOC129388697, LOC129388698, LOC129388699, LOC129388700, LOC129388701, LOC129388702, LOC129388703, LOC129388704, LOC129388705, LOC129388706, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129388714, LOC129388715, LOC129388716, LOC129388717, LOC129388718, LOC129388719, LOC129388720, LOC129388721, LOC129388722, LOC129388723, LOC129388724, LOC129388725, LOC129388726, LOC129388727, LOC129388728, LOC129388729, LOC129388730, LOC129388731, LOC129388732, LOC129388733, LOC129388734, LOC129388735, LOC129388736, LOC129388737, LOC129388738, LOC129388739, LOC129388740, LOC129388741, LOC129388742, LOC129388743, LOC129388744, LOC129388745, LOC129388746, LOC129388747, LOC129388748, LOC129388749, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129388757, LOC129932129, LOC129932130, LOC129932131, LOC129932132, LOC129932133, LOC129932134, LOC129932135, LOC129932136, LOC129932137, LOC129932138, LOC129932139, LOC129932140, LOC129932141, LOC129932142, LOC129932143, LOC129932144, LOC129932145, LOC129932146, LOC129932147, LOC129932148, LOC129932149, LOC129932150, LOC129932151, LOC129932152, LOC129932153, LOC129932154, LOC129932155, LOC129932156, LOC129932157, LOC129932158, LOC129932159, LOC129932160, LOC129932161, LOC129932162, LOC129932163, LOC129932164, LOC129932165, LOC129932166, LOC129932167, LOC129932168, LOC129932169, LOC129932170, LOC129932171, LOC129932172, LOC129932173, LOC129932174, LOC129932175, LOC129932176, LOC129932177, LOC129932178, LOC129932179, LOC129932180, LOC129932181, LOC129932182, LOC129932183, LOC129932184, LOC129932185, LOC129932186, LOC129932187, LOC129932188, LOC129932189, LOC129932190, LOC129932191, LOC129932192, LOC129932193, LOC129932194, LOC129932195, LOC129932196, LOC129932197, LOC129932198, LOC129932199, LOC129932200, LOC129932201, LOC129932202, LOC129932203, LOC129932204, LOC129932205, LOC129932206, LOC129932207, LOC129932208, LOC129932209, LOC129932210, LOC129932211, LOC129932212, LOC129932213, LOC129932214, LOC129932215, LOC129932216, LOC129932217, LOC129932218, LOC129932219, LOC129932220, LOC129932221, LOC129932222, LOC129932223, LOC129932224, LOC129932225, LOC129932226, LOC129932227, LOC129932228, LOC129932229, LOC129932230, LOC129932231, LOC129932232, LOC129932233, LOC129932234, LOC129932235, LOC129932236, LOC129932237, LOC129932238, LOC129932239, LOC129932240, LOC129932241, LOC129932242, LOC129932243, ADIPOR1, ADORA1, AIDA, ANGEL2, ARL8A, ASCL5, ASPM, ATF3, ATP2B4, ATP6V1G3, AVPR1B, AVPR1B-DT, B3GALT2, BATF3, BLACAT1, BMNCR, BPNT1, BRINP3, BRINP3-DT, BROX, BTG2, BTG2-DT, C1orf115, C1orf116, C1orf53, C1orf74, C4BPA, C4BPB, CACNA1S, CAMK1G, CAMSAP2, CAPN2, CAPN8, CCDC185, CD34, CD46, CD55, CDC73, CDK18, CENPF, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CHI3L1, CHIT1, CNTN2, CR1, CR1L, CR2, CRB1, CSRP1, CSRP1-AS1, CTSE, CYB5R1, DDX59, DDX59-AS1, DEGS1, DENND1B, DISP1, DSTYK, DTL, DUSP10, DYRK3, DYRK3-AS1, EIF2D, ELF3, ELF3-AS1, ELK4, EPRS1, TAF1A, TAF1A-AS1, TATDN3, TGFB2, TGFB2-AS1, TGFB2-OT1, TIMM17A, TLR5, TMCC2, TMCC2-AS1, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, TP53BP2, TRAF3IP3, TRAF5, TRK-TTT3-1, TRK-TTT3-2, TRK-TTT8-1, TRT-TGT2-1, UBE2T, UCHL5, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, YOD1, ZBED6, ZBTB41, ZC3H11A, ZC3H11B, ZNF281
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr1:200113731-203081206
GRCh38:
Chr1:200144603-203112078
ADIPOR1, ARL8A, ASCL5, CACNA1S, CAMSAP2, CSRP1, CSRP1-AS1, CYB5R1, DDX59, DDX59-AS1, ELF3, ELF3-AS1, GPR25, GPR37L1, IGFN1, INAVA, IPO9, IPO9-AS1, KDM5B, KIF14, KIF21B, KLHL12, LAD1, LGR6, LINC00862, LMOD1, LOC101929305, LOC111429603, LOC111721704, LOC112577526, LOC112577527, LOC112577528, LOC112577529, LOC112577530, LOC114827844, LOC115804238, LOC115804239, LOC115804240, LOC115804242, LOC120893170, LOC120893171, LOC120893172, LOC120893173, LOC120893174, LOC122149340, LOC122149341, LOC122149342, LOC122149343, LOC122149344, LOC122149345, LOC122149346, LOC126805974, LOC126805975, LOC126805976, LOC126805977, LOC126805978, LOC129388725, LOC129388726, LOC129388727, LOC129388728, LOC129388729, LOC129932182, LOC129932183, LOC129932184, LOC129932185, LOC129932186, LOC129932187, LOC129932188, LOC129932189, LOC129932190, LOC129932191, LOC129932192, LOC129932193, LOC129932194, LOC129932195, LOC129932196, LOC129932197, LOC129932198, LOC129932199, LOC129932200, LOC129932201, LOC129932202, LOC129932203, LOC129932204, LOC129932205, LOC129932206, LOC129932207, LOC129932208, LOC129932209, LOC129932210, LOC129932211, LOC129932212, LOC129932213, LOC129932214, LOC129932215, LOC129932216, LOC129932217, LOC129932218, LOC129932219, LOC129932220, LOC129932221, LOC129932222, LOC129932223, LOC129932224, LOC129932225, LOC129932226, LOC129932227, LOC129932228, LOC129932229, LOC129932230, LOC129932231, LOC129932232, LOC129932233, LOC129932234, LOC129932235, LOC129932236, LOC129932237, LOC129932238, LOC129932239, LOC129932240, LOC129932241, LOC129932242, LOC129932243, LOC129932244, LOC129932245, LOC129932246, LOC129932247, LOC129932248, LOC129932249, LOC129932250, LOC129932251, LOC129932252, LOC129932253, LOC129932254, LOC129932255, LOC129932256, LOC129932257, LOC129932258, LOC129932259, LOC129932260, LOC129932261, LOC129932262, MIR1231, MIR5191, MIR6739, MIR6740, MYOG, MYOPARR, NAV1, NR5A2, PCAT6, PHLDA3, PKP1, PPFIA4, PPP1R12B, PTPN7, RABIF, RNPEP, SHISA4, SNORA70H, SYT2, TIMM17A, TMEM183A, TMEM9, TNNI1, TNNT2, UBE2T, ZNF281
See casesPathogenic
(Aug 2, 2013)
no assertion criteria provided
3.
GRCh37:
Chr1:201195553-201983332
GRCh38:
Chr1:201226425-202014204
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr1:201328158
GRCh38:
Chr1:201359030
TNNT2not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr1:201328168
GRCh38:
Chr1:201359040
TNNT2not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr1:201328188
GRCh38:
Chr1:201359060
TNNT2not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr1:201328215
GRCh38:
Chr1:201359087
TNNT2not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr1:201328248
GRCh38:
Chr1:201359120
TNNT2not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr1:201328250
GRCh38:
Chr1:201359122
TNNT2not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr1:201328267
GRCh38:
Chr1:201359139
TNNT2not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr1:201328272
GRCh38:
Chr1:201359144
TNNT2Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy,
Familial restrictive cardiomyopathy, not provided
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:201328298
GRCh38:
Chr1:201359170
TNNT2not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr1:201328299
GRCh38:
Chr1:201359171
TNNT2Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, not provided
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr1:201328301
GRCh38:
Chr1:201359173
TNNT2Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr1:201328301
GRCh38:
Chr1:201359173
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
not provided
Conflicting interpretations of pathogenicity
(Oct 1, 2023)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr1:201328307
GRCh38:
Chr1:201359179
TNNT2not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr1:201328335
GRCh38:
Chr1:201359207
TNNT2CardiomyopathyUncertain significance
(Jul 13, 2020)
criteria provided, single submitter
18.
GRCh37:
Chr1:201328335
GRCh38:
Chr1:201359207
TNNT2Cardiomyopathy, not providedConflicting interpretations of pathogenicity
(Jul 14, 2020)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr1:201328336
GRCh38:
Chr1:201359208
TNNT2CardiomyopathyUncertain significance
(Dec 18, 2019)
criteria provided, single submitter
20.
GRCh37:
Chr1:201328338
GRCh38:
Chr1:201359210
TNNT2Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2,
Cardiovascular phenotype
Likely benign
(Oct 1, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:201328340
GRCh38:
Chr1:201359212
TNNT2Cardiovascular phenotypeUncertain significance
(Nov 19, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr1:201328342
GRCh38:
Chr1:201359214
TNNT2K288T, K295T, K282T, K255T, K285T, K298THypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Dec 8, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:201328344
GRCh38:
Chr1:201359216
TNNT2W287*, W294*, W284*, W281*, W254*, W297*Hypertrophic cardiomyopathy, not provided, Dilated cardiomyopathy 1D,
Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Cardiovascular phenotype
Pathogenic/Likely pathogenic
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:201328345
GRCh38:
Chr1:201359217
TNNT2W287L, W294L, W281L, W284L, W297L, W254Lnot providedUncertain significance
(Oct 18, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr1:201328345
GRCh38:
Chr1:201359217
TNNT2W287*, W294*, W281*, W284*, W254*, W297*not provided, Cardiomyopathy, Dilated cardiomyopathy 1D,
Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy,
Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Primary familial hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Sep 13, 2023)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:201328348
GRCh38:
Chr1:201359220
TNNT2R286H, R293H, R253H, R280H, R283H, R296HCardiovascular phenotype, not specified, not provided,
Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Cardiomyopathy
Uncertain significance
(Oct 2, 2023)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:201328349
GRCh38:
Chr1:201359221
TNNT2R293S, R286S, R283S, R253S, R280S, R296SDilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr1:201328349
GRCh38:
Chr1:201359221
TNNT2R286C, R293C, R280C, R296C, R283C, R253CCardiovascular phenotype, not specified, not provided,
Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr1:201328350
GRCh38:
Chr1:201359222
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Cardiomyopathy, not provided
Benign/Likely benign
(Mar 9, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:201328351
GRCh38:
Chr1:201359223
TNNT2G285E, G292E, G295E, G252E, G279E, G282EHypertrophic cardiomyopathy, not providedUncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:201328352
GRCh38:
Chr1:201359224
TNNT2G285R, G292R, G252R, G282R, G279R, G295RHypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:201328352
GRCh38:
Chr1:201359224
TNNT2G285R, G292R, G252R, G279R, G295R, G282RCardiovascular phenotype, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D,
Cardiomyopathy, familial restrictive, 3, not provided, Cardiomyopathy
Uncertain significance
(Mar 17, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr1:201328353
GRCh38:
Chr1:201359225
TNNT2Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy 2,
Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, not provided,
Cardiomyopathy
Likely benign
(Oct 29, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:201328356
GRCh38:
Chr1:201359228
TNNT2Cardiovascular phenotypeLikely benign
(Oct 14, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr1:201328357
GRCh38:
Chr1:201359229
TNNT2V283D, V290D, V250D, V280D, V277D, V293DPrimary familial hypertrophic cardiomyopathyUncertain significance
(Oct 8, 2014)
no assertion criteria provided
36.
GRCh37:
Chr1:201328361
GRCh38:
Chr1:201359233
TNNT2K289E, K282E, K249E, K276E, K279E, K292EHypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr1:201328365
GRCh38:
Chr1:201359237
TNNT2K247N, K274N, K277N, K280N, K287N, K290NCardiomyopathyUncertain significance
(Jul 26, 2019)
criteria provided, single submitter
38.
GRCh37:
Chr1:201328367
GRCh38:
Chr1:201359239
TNNT2K247E, K274E, K275E, K277E, K279E, K280E, K287E, K290EHypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Sep 20, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr1:201328369
GRCh38:
Chr1:201359241
TNNT2G279E, G286E, G273E, G289E, G246E, G276Enot specified, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Hypertrophic cardiomyopathy 2, not provided
Uncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:201328370
GRCh38:
Chr1:201359242
TNNT2G246R, G273R, G276R, G279R, G286R, G289RDilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr1:201328370
GRCh38:
Chr1:201359242
TNNT2G279R, G286R, G246R, G289R, G273R, G276Rnot provided, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D,
Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:201328371
GRCh38:
Chr1:201359243
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Cardiovascular phenotype, Cardiomyopathy
Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:201328372
GRCh38:
Chr1:201359244
TNNT2R278P, R285P, R245P, R272P, R288P, R275PHypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, not specified,
Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 1
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr1:201328372
GRCh38:
Chr1:201359244
TNNT2R278H, R285H, R245H, R272H, R275H, R288HCardiovascular phenotype, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Hypertrophic cardiomyopathy 2, Cardiomyopathy
Uncertain significance
(Feb 9, 2023)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:201328373
GRCh38:
Chr1:201359245
TNNT2R278C, R285C, R288C, R272C, R245C, R275CCardiovascular phenotype, not specified, Cardiomyopathy,
Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
not provided, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 2,
Dilated cardiomyopathy 1D, Primary familial hypertrophic cardiomyopathyHypertrophic cardiomyopathy,
...see more
Conflicting interpretations of pathogenicity
(Jun 29, 2023)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr1:201328374
GRCh38:
Chr1:201359246
TNNT2Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D
Likely benign
(May 28, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr1:201328374
GRCh38:
Chr1:201359246
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Likely benign
(Mar 14, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr1:201328374
GRCh38:
Chr1:201359246
TNNT2Cardiovascular phenotype, Cardiomyopathy, not provided,
Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
Likely benign
(Jun 14, 2020)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:201328377
GRCh38:
Chr1:201359249
TNNT2Dilated cardiomyopathy 1DDUncertain significanceno assertion criteria provided
50.
GRCh37:
Chr1:201328381
GRCh38:
Chr1:201359253
TNNT2S275Y, S282Y, S242Y, S272Y, S285Y, S269Ynot specifiedUncertain significance
(Jun 2, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr1:201328384
GRCh38:
Chr1:201359256
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
not provided
Uncertain significance
(Oct 6, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr1:201328385
GRCh38:
Chr1:201359257
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Oct 7, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr1:201328385
GRCh38:
Chr1:201359257
TNNT2not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Hypertrophic cardiomyopathy 2, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Sep 14, 2022)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr1:201328386
GRCh38:
Chr1:201359258
TNNT2Hypertrophic cardiomyopathy 2Uncertain significance
(May 26, 2020)
criteria provided, single submitter
55.
GRCh37:
Chr1:201328386
GRCh38:
Chr1:201359258
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Mar 9, 2020)
criteria provided, single submitter
56.
GRCh37:
Chr1:201328386
GRCh38:
Chr1:201359258
TNNT2Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2,
not provided, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 20, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr1:201328390
GRCh38:
Chr1:201359262
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Likely benign
(Apr 30, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr1:201328401
GRCh38:
Chr1:201359273
TNNT2not specified, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Hypertrophic cardiomyopathy 2
Likely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr1:201328402
GRCh38:
Chr1:201359274
TNNT2not specified, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D,
Hypertrophic cardiomyopathy 2
Benign/Likely benign
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:201328406
GRCh38:
Chr1:201359278
TNNT2not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Hypertrophic cardiomyopathy 2
Likely benign
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:201328708
GRCh38:
Chr1:201359580
TNNT2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr1:201328729
GRCh38:
Chr1:201359601
TNNT2not specifiedBenigncriteria provided, single submitter
63.
GRCh37:
Chr1:201328746
GRCh38:
Chr1:201359618
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Aug 1, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr1:201328746
GRCh38:
Chr1:201359618
TNNT2not specified, not provided, Cardiomyopathy,
Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
Conflicting interpretations of pathogenicity
(Mar 18, 2022)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr1:201328748-201328749
GRCh38:
Chr1:201359620-201359621
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Oct 23, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr1:201328750
GRCh38:
Chr1:201359622
TNNT2Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2,
Hypertrophic cardiomyopathy 2
Pathogenic/Likely pathogenic
(Jul 12, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr1:201328750
GRCh38:
Chr1:201359622
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:201328750
GRCh38:
Chr1:201359622
TNNT2Cardiovascular phenotype, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Hypertrophic cardiomyopathy 2, Cardiomyopathy, Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Sep 16, 2021)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr1:201328751
GRCh38:
Chr1:201359623
TNNT2V281A, V268A, V269A, V271A, V273A, V284A, V241A, V274AHypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D
Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr1:201328753
GRCh38:
Chr1:201359625
TNNT2Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D,
Cardiomyopathy
Conflicting interpretations of pathogenicity
(Aug 21, 2022)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr1:201328755
GRCh38:
Chr1:201359627
TNNT2K240Q, K267Q, K270Q, K273Q, K280Q, K283QHypertrophic cardiomyopathyUncertain significancecriteria provided, single submitter
72.
GRCh37:
Chr1:201328755
GRCh38:
Chr1:201359627
TNNT2K273E, K280E, K283E, K240E, K267E, K270Enot providedPathogenic
(Sep 28, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr1:201328757-201328758
GRCh38:
Chr1:201359629-201359630
TNNT2Q282fs, Q266fs, Q269fs, Q272fs, Q279fs, Q239fsCardiomyopathyPathogenic
(Sep 11, 2013)
criteria provided, single submitter
74.
GRCh37:
Chr1:201328758
GRCh38:
Chr1:201359630
TNNT2Q239*, Q266*, Q269*, Q272*, Q279*, Q282*Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D,
Cardiovascular phenotype
Uncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:201328760
GRCh38:
Chr1:201359632
TNNT2N265S, N278S, N238S, N271S, N281S, N268SDilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr1:201328760
GRCh38:
Chr1:201359632
TNNT2N268I, N271I, N278I, N265I, N238I, N281Inot provided, not specified, Cardiomyopathy,
Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D,
Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
Conflicting interpretations of pathogenicity
(Aug 21, 2023)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr1:201328761
GRCh38:
Chr1:201359633
TNNT2N265Y, N268Y, N271Y, N238Y, N278Y, N281YDilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
Uncertain significance
(Jul 19, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr1:201328764
GRCh38:
Chr1:201359636
TNNT2D270Y, D277Y, D237Y, D267Y, D264Y, D280YHypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr1:201328764
GRCh38:
Chr1:201359636
TNNT2D270N, D277N, D267N, D280N, D237N, D264NCardiovascular phenotype, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2,
Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:201328765
GRCh38:
Chr1:201359637
TNNT2N269K, N276K, N236K, N263K, N266K, N279KCardiovascular phenotypeLikely pathogenic
(Aug 12, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr1:201328765
GRCh38:
Chr1:201359637
TNNT2Cardiovascular phenotype, not provided, not specified,
Cardiomyopathy, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D,
Cardiomyopathy, familial restrictive, 3
Conflicting interpretations of pathogenicity
(Aug 15, 2022)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr1:201328766
GRCh38:
Chr1:201359638
TNNT2N236S, N266S, N269S, N276S, N263S, N279SDilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
Uncertain significance
(Mar 4, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr1:201328767
GRCh38:
Chr1:201359639
TNNT2N269Y, N276Y, N266Y, N236Y, N263Y, N279Ynot providedUncertain significance
(Sep 21, 2011)
criteria provided, single submitter
84.
GRCh37:
Chr1:201328767
GRCh38:
Chr1:201359639
TNNT2N269D, N276D, N236D, N263D, N266D, N279DCardiovascular phenotype, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D,
Cardiomyopathy, familial restrictive, 3, Cardiomyopathy
Uncertain significance
(Feb 11, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:201328768
GRCh38:
Chr1:201359640
TNNT2Cardiomyopathy, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D,
Cardiomyopathy, familial restrictive, 3
Likely benign
(Oct 27, 2021)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:201328774
GRCh38:
Chr1:201359646
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Likely benign
(Aug 14, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr1:201328778
GRCh38:
Chr1:201359650
TNNT2R265Q, R272Q, R232Q, R262Q, R259Q, R275Qnot provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Hypertrophic cardiomyopathy 2, Cardiomyopathy
Uncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:201328779
GRCh38:
Chr1:201359651
TNNT2R262*, R275*, R232*, R259*, R265*, R272*Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Apr 8, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr1:201328779
GRCh38:
Chr1:201359651
TNNT2Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
Uncertain significance
(Sep 2, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr1:201328784
GRCh38:
Chr1:201359656
TNNT2V263A, V270A, V273A, V257A, V230A, V260AHypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr1:201328785
GRCh38:
Chr1:201359657
TNNT2V273I, V263I, V257I, V230I, V260I, V270IPrimary dilated cardiomyopathyUncertain significance
(Jul 3, 2019)
criteria provided, single submitter
92.
GRCh37:
Chr1:201328787
GRCh38:
Chr1:201359659
TNNT2N262S, N269S, N229S, N259S, N256S, N272Snot specified, not provided, Dilated cardiomyopathy 1D,
Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Cardiomyopathy
Uncertain significance
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:201328790
GRCh38:
Chr1:201359662
TNNT2I228S, I255S, I271S, I268S, I258S, I261SCardiomyopathy, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D,
Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Aug 10, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:201328792
GRCh38:
Chr1:201359664
TNNT2CardiomyopathyUncertain significance
(Jun 26, 2019)
criteria provided, single submitter
95.
GRCh37:
Chr1:201328795
GRCh38:
Chr1:201359667
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Likely benign
(Jun 7, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr1:201328796
GRCh38:
Chr1:201359668
TNNT2Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3
Uncertain significance
(Jan 1, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:201328798
GRCh38:
Chr1:201359670
TNNT2Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
Likely benign
(May 24, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:201328799
GRCh38:
Chr1:201359671
TNNT2Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
Benign
(May 16, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr1:201328802
GRCh38:
Chr1:201359674
TNNT2Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr1:201328810
GRCh38:
Chr1:201359682
TNNT2not specifiedLikely benign
(Jun 27, 2016)
criteria provided, single submitter
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