| - GRCh37:
- Chr1:187113113-224487119
- GRCh38:
- Chr1:187143981-224299417
| LINC01222, LINC01720, LINC01352, LINC01353, LINC01724, LINC01740, LINC02770, LINC02771, LINC02773, LINC02779, LOC107325942, LOC107548112, LOC107988045, LOC111429604, LOC111429612, LOC111556116, LINC01653, LINC01774, LINC02789, LOC108281163, LOC111721704, LOC112577523, LOC112577536, LOC112577537, LOC115804238, LOC115804246, LOC120807609, LOC120908904, LOC120908905, LOC120893170, LOC120893171, LOC120893172, LOC120893173, LOC120893174, LOC120893175, LOC120893176, LOC120908903, LOC120908908, LOC120908909, LOC112577538, LOC112577542, LOC112577543, LOC113939983, LOC113939984, LOC114827844, LOC115804237, LOC115804239, LOC115804240, LOC115804242, LOC115804243, LOC115804244, LOC110121257, LOC110121306, LOC111365207, LOC111429603, LOC108281185, LOC110120610, LOC110120807, LOC110121042, LOC110121056, LOC110121057, LOC110121081, LOC115804245, LOC120908906, LOC120908907, LOC120807610, LOC112577526, LOC112577527, LOC112577530, LOC112577531, LOC112577532, LOC112577533, LINC02608, LINC02767, LINC02769, LOC112577534, LINC02257, LINC02474, LOC112577535, LINC02942, LMOD1, LOC101927143, LOC101927164, LINC02817, LOC103021295, LOC107325941, LINC01221, LINC02869, LINC01696, LINC01698, LINC01036, LINC01037, LINC01710, LOC112577528, LOC112577529, LINC01717, LOC120893169, LINC01031, LINC01655, LINC01035, LINC01680, LINC02602, LINC00467, LINC00538, LINC00628, LINC00862, 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, 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, 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, ADIPOR1, ADORA1, AIDA, ANGEL2, ARL8A, ASCL5, ASPM, ATF3, ATP2B4, ATP6V1G3, AVPR1B, 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, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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, 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, 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 cases | Pathogenic (Aug 2, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:201195553-201983332
- GRCh38:
- Chr1:201226425-202014204
| CSRP1, CSRP1-AS1, ELF3, ELF3-AS1, IGFN1, IPO9, IPO9-AS1, LAD1, LMOD1, LOC111721704, LOC112577528, LOC112577529, LOC112577530, LOC114827844, LOC115804238, LOC120893171, LOC120893172, LOC126805977, MIR1231, MIR5191, MIR6739, MIR6740, NAV1, PHLDA3, PKP1, RNPEP, SHISA4, SNORA70H, TIMM17A, TNNI1, TNNT2 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328158
- GRCh38:
- Chr1:201359030
| TNNT2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328168
- GRCh38:
- Chr1:201359040
| TNNT2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328188
- GRCh38:
- Chr1:201359060
| TNNT2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328215
- GRCh38:
- Chr1:201359087
| TNNT2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328248
- GRCh38:
- Chr1:201359120
| TNNT2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328250
- GRCh38:
- Chr1:201359122
| TNNT2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328267
- GRCh38:
- Chr1:201359139
| TNNT2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328272
- GRCh38:
- Chr1:201359144
| TNNT2 | | Dilated 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 |
| - GRCh37:
- Chr1:201328298
- GRCh38:
- Chr1:201359170
| TNNT2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328299
- GRCh38:
- Chr1:201359171
| TNNT2 | | Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, not provided
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201328301
- GRCh38:
- Chr1:201359173
| TNNT2 | | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328301
- GRCh38:
- Chr1:201359173
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, not provided | Conflicting interpretations of pathogenicity (Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201328307
- GRCh38:
- Chr1:201359179
| TNNT2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328335
- GRCh38:
- Chr1:201359207
| TNNT2 | | Cardiomyopathy | Uncertain significance (Jul 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328335
- GRCh38:
- Chr1:201359207
| TNNT2 | | Cardiomyopathy, not provided | Conflicting interpretations of pathogenicity (Jul 14, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201328336
- GRCh38:
- Chr1:201359208
| TNNT2 | | Cardiomyopathy | Uncertain significance (Dec 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328338
- GRCh38:
- Chr1:201359210
| TNNT2 | | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Cardiovascular phenotype | Likely benign (Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328340
- GRCh38:
- Chr1:201359212
| TNNT2 | | Cardiovascular phenotype | Uncertain significance (Nov 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328342
- GRCh38:
- Chr1:201359214
| TNNT2 | K288T, K295T, K282T, K255T, K285T, K298T | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Uncertain significance (Dec 8, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328344
- GRCh38:
- Chr1:201359216
| TNNT2 | W287*, 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 |
| - GRCh37:
- Chr1:201328345
- GRCh38:
- Chr1:201359217
| TNNT2 | W287L, W294L, W281L, W284L, W297L, W254L | not provided | Uncertain significance (Oct 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328345
- GRCh38:
- Chr1:201359217
| TNNT2 | W287*, W294*, W281*, W284*, W254*, W297* | Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 2, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
| Pathogenic/Likely pathogenic (Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328348
- GRCh38:
- Chr1:201359220
| TNNT2 | R286H, R293H, R253H, R280H, R283H, R296H | Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2 | Uncertain significance (Feb 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328349
- GRCh38:
- Chr1:201359221
| TNNT2 | R293S, R286S, R283S, R253S, R280S, R296S | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Cardiovascular phenotype | Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201328349
- GRCh38:
- Chr1:201359221
| TNNT2 | R286C, R293C, R280C, R296C, R283C, R253C | Cardiovascular 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 |
| - GRCh37:
- Chr1:201328350
- GRCh38:
- Chr1:201359222
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Cardiomyopathy, not provided | Benign/Likely benign (Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328351
- GRCh38:
- Chr1:201359223
| TNNT2 | G285E, G292E, G295E, G252E, G279E, G282E | Hypertrophic cardiomyopathy, not provided | Uncertain significance (Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328352
- GRCh38:
- Chr1:201359224
| TNNT2 | G285R, G292R, G252R, G282R, G279R, G295R | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328352
- GRCh38:
- Chr1:201359224
| TNNT2 | G285R, G292R, G252R, G279R, G295R, G282R | Cardiovascular 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 |
| - GRCh37:
- Chr1:201328353
- GRCh38:
- Chr1:201359225
| TNNT2 | | Cardiovascular 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 |
| - GRCh37:
- Chr1:201328356
- GRCh38:
- Chr1:201359228
| TNNT2 | | Cardiovascular phenotype | Likely benign (Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328357
- GRCh38:
- Chr1:201359229
| TNNT2 | V283D, V290D, V250D, V280D, V277D, V293D | Primary familial hypertrophic cardiomyopathy | Uncertain significance (Oct 8, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr1:201328361
- GRCh38:
- Chr1:201359233
| TNNT2 | K289E, K282E, K249E, K276E, K279E, K292E | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328365
- GRCh38:
- Chr1:201359237
| TNNT2 | K247N, K274N, K277N, K280N, K287N, K290N | Cardiomyopathy | Uncertain significance (Jul 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328367
- GRCh38:
- Chr1:201359239
| TNNT2 | K247E, K274E, K275E, K277E, K279E, K280E, K287E, K290E | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Uncertain significance (Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328369
- GRCh38:
- Chr1:201359241
| TNNT2 | G279E, G286E, G273E, G289E, G246E, G276E | not specified, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, not provided | Uncertain significance (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328370
- GRCh38:
- Chr1:201359242
| TNNT2 | G246R, G273R, G276R, G279R, G286R, G289R | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
| Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328370
- GRCh38:
- Chr1:201359242
| TNNT2 | G279R, G286R, G246R, G289R, G273R, G276R | not provided, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3 | Uncertain significance (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328371
- GRCh38:
- Chr1:201359243
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Cardiovascular phenotype, Cardiomyopathy | Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328372
- GRCh38:
- Chr1:201359244
| TNNT2 | R278P, R285P, R245P, R272P, R288P, R275P | Hypertrophic 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 |
| - GRCh37:
- Chr1:201328372
- GRCh38:
- Chr1:201359244
| TNNT2 | R278H, R285H, R245H, R272H, R275H, R288H | Cardiovascular phenotype, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Cardiomyopathy | Uncertain significance (Feb 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328373
- GRCh38:
- Chr1:201359245
| TNNT2 | R278C, R285C, R288C, R272C, R245C, R275C | Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, not provided, Cardiomyopathy, 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 |
| - GRCh37:
- Chr1:201328374
- GRCh38:
- Chr1:201359246
| TNNT2 | | Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D
| Likely benign (May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328374
- GRCh38:
- Chr1:201359246
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Likely benign (Mar 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328374
- GRCh38:
- Chr1:201359246
| TNNT2 | | Cardiovascular 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 |
| - GRCh37:
- Chr1:201328377
- GRCh38:
- Chr1:201359249
| TNNT2 | | Dilated cardiomyopathy 1DD | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:201328381
- GRCh38:
- Chr1:201359253
| TNNT2 | S275Y, S282Y, S242Y, S272Y, S285Y, S269Y | not specified | Uncertain significance (Jun 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328384
- GRCh38:
- Chr1:201359256
| TNNT2 | | not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2 | Uncertain significance (Oct 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328385
- GRCh38:
- Chr1:201359257
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Uncertain significance (Oct 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328385
- GRCh38:
- Chr1:201359257
| TNNT2 | | not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Cardiovascular phenotype | Conflicting interpretations of pathogenicity (Sep 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201328386
- GRCh38:
- Chr1:201359258
| TNNT2 | | Hypertrophic cardiomyopathy 2 | Uncertain significance (May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328386
- GRCh38:
- Chr1:201359258
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Uncertain significance (Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328386
- GRCh38:
- Chr1:201359258
| TNNT2 | | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, not provided, Cardiomyopathy | Conflicting interpretations of pathogenicity (Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201328390
- GRCh38:
- Chr1:201359262
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Likely benign (Apr 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328401
- GRCh38:
- Chr1:201359273
| TNNT2 | | not specified, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2 | Likely benign (Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328402
- GRCh38:
- Chr1:201359274
| TNNT2 | | not specified, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2 | Benign/Likely benign (Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328406
- GRCh38:
- Chr1:201359278
| TNNT2 | | not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2 | Likely benign (Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328708
- GRCh38:
- Chr1:201359580
| TNNT2 | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328729
- GRCh38:
- Chr1:201359601
| TNNT2 | | not specified | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328746
- GRCh38:
- Chr1:201359618
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Uncertain significance (Aug 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328746
- GRCh38:
- Chr1:201359618
| TNNT2 | | not 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 |
| - GRCh37:
- Chr1:201328748-201328749
- GRCh38:
- Chr1:201359620-201359621
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Uncertain significance (Oct 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328750
- GRCh38:
- Chr1:201359622
| TNNT2 | | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy 2 | Pathogenic/Likely pathogenic (Jul 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328750
- GRCh38:
- Chr1:201359622
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic (Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328750
- GRCh38:
- Chr1:201359622
| TNNT2 | | Cardiovascular 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 |
| - GRCh37:
- Chr1:201328751
- GRCh38:
- Chr1:201359623
| TNNT2 | V281A, V268A, V269A, V271A, V273A, V284A, V241A, V274A | Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D
| Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328753
- GRCh38:
- Chr1:201359625
| TNNT2 | | Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Cardiomyopathy | Conflicting interpretations of pathogenicity (Aug 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201328755
- GRCh38:
- Chr1:201359627
| TNNT2 | K240Q, K267Q, K270Q, K273Q, K280Q, K283Q | Hypertrophic cardiomyopathy | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328755
- GRCh38:
- Chr1:201359627
| TNNT2 | K273E, K280E, K283E, K240E, K267E, K270E | not provided | Pathogenic (Sep 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328757-201328758
- GRCh38:
- Chr1:201359629-201359630
| TNNT2 | Q282fs, Q266fs, Q269fs, Q272fs, Q279fs, Q239fs | Cardiomyopathy | Pathogenic (Sep 11, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328758
- GRCh38:
- Chr1:201359630
| TNNT2 | Q239*, 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 |
| - GRCh37:
- Chr1:201328760
- GRCh38:
- Chr1:201359632
| TNNT2 | N265S, N278S, N238S, N271S, N281S, N268S | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
| Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328760
- GRCh38:
- Chr1:201359632
| TNNT2 | N268I, N271I, N278I, N265I, N238I, N281I | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D | Conflicting interpretations of pathogenicity (Dec 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201328761
- GRCh38:
- Chr1:201359633
| TNNT2 | N265Y, N268Y, N271Y, N238Y, N278Y, N281Y | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
| Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328764
- GRCh38:
- Chr1:201359636
| TNNT2 | D270Y, D277Y, D237Y, D267Y, D264Y, D280Y | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328764
- GRCh38:
- Chr1:201359636
| TNNT2 | D270N, D277N, D267N, D280N, D237N, D264N | Cardiovascular phenotype, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3 | Uncertain significance (Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328765
- GRCh38:
- Chr1:201359637
| TNNT2 | N269K, N276K, N236K, N263K, N266K, N279K | Cardiovascular phenotype | Likely pathogenic (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328765
- GRCh38:
- Chr1:201359637
| TNNT2 | | Cardiovascular 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 |
| - GRCh37:
- Chr1:201328766
- GRCh38:
- Chr1:201359638
| TNNT2 | N236S, N266S, N269S, N276S, N263S, N279S | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
| Uncertain significance (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328767
- GRCh38:
- Chr1:201359639
| TNNT2 | N269Y, N276Y, N266Y, N236Y, N263Y, N279Y | not provided | Uncertain significance (Sep 21, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328767
- GRCh38:
- Chr1:201359639
| TNNT2 | N269D, N276D, N236D, N263D, N266D, N279D | Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Cardiomyopathy | Uncertain significance (Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328768
- GRCh38:
- Chr1:201359640
| TNNT2 | | Cardiomyopathy, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3 | Likely benign (Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328774
- GRCh38:
- Chr1:201359646
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Likely benign (Aug 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328778
- GRCh38:
- Chr1:201359650
| TNNT2 | R265Q, R272Q, R232Q, R262Q, R259Q, R275Q | not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Cardiomyopathy | Uncertain significance (Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328779
- GRCh38:
- Chr1:201359651
| TNNT2 | R262*, R275*, R232*, R259*, R265*, R272* | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy, Cardiovascular phenotype | Conflicting interpretations of pathogenicity (Apr 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201328779
- GRCh38:
- Chr1:201359651
| TNNT2 | | Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2
| Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328784
- GRCh38:
- Chr1:201359656
| TNNT2 | V263A, V270A, V273A, V257A, V230A, V260A | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328785
- GRCh38:
- Chr1:201359657
| TNNT2 | V273I, V263I, V257I, V230I, V260I, V270I | Primary dilated cardiomyopathy | Uncertain significance (Jul 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328787
- GRCh38:
- Chr1:201359659
| TNNT2 | N262S, N269S, N229S, N259S, N256S, N272S | not specified, not provided, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Cardiomyopathy
| Uncertain significance (Jan 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328790
- GRCh38:
- Chr1:201359662
| TNNT2 | I228S, I255S, I271S, I268S, I258S, I261S | Cardiomyopathy, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3 | Uncertain significance (Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328792
- GRCh38:
- Chr1:201359664
| TNNT2 | | Cardiomyopathy | Uncertain significance (Jun 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328795
- GRCh38:
- Chr1:201359667
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Likely benign (Jun 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328796
- GRCh38:
- Chr1:201359668
| TNNT2 | | Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3
| Uncertain significance (Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328798
- GRCh38:
- Chr1:201359670
| TNNT2 | | Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
| Likely benign (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328799
- GRCh38:
- Chr1:201359671
| TNNT2 | | Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3
| Benign (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328802
- GRCh38:
- Chr1:201359674
| TNNT2 | | Cardiomyopathy, familial restrictive, 3, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
| Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201328810
- GRCh38:
- Chr1:201359682
| TNNT2 | | not specified | Likely benign (Jun 27, 2016) | criteria provided, single submitter |