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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:164821892-183059789
GRCh38:
Chr2:163965382-182195062
ATP5MC3, CHN1, CHRNA1, ATF2, DLX1, DLX2, DYNC1I2, GAD1, GALNT3, GRB14, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, PDE1A, HOXD13, ITGA6, ITGA4, LRP2, NEUROD1, NFE2L2, PDK1, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SP3, SSB, ITPRID2, TTN, WIPF1, HAT1, AGPS, PRKRA, SLC25A12, ABCB11, B3GALT1, PPIG, CIR1, TLK1, DHRS9, KLHL41, UBE2E3, MTX2, RAPGEF4, COBLL1, GORASP2, STK39, METTL5, OLA1, PDE11A, FKBP7, MAP3K20, SPC25, CWC22, G6PC2, PLEKHA3, SCRN3, FASTKD1, TTC21B, METTL8, CYBRD1, CSRNP3, DCAF17, LNPK, CDCA7, RAPGEF4-AS1, SESTD1, TTC30A, OSBPL6, NOSTRIN, XIRP2, RBM45, BBS5, CCDC173, UBR3, MYO3B, TTC30B, ZNF385B, KLHL23, PPP1R1C, SLC38A11, GPR155, HNRNPA3, CERS6, METAP1D, CCDC141, LINC01305, ERICH2, MAP3K20-AS1, EVX2, LINC01116, CERKL, SP5, LOC401021, HAGLR, MIR10B, LINC01124, PHOSPHO2, PJVK, MIR933, LINC01960, LOC100130691, SP9, MIR1246, MIR1258, SNORA70F, MIR3128, LOC100506124, TTC21B-AS1, HOXD-AS2, TTN-AS1, PHOSPHO2-KLHL23, MIR4437, MIR4774, MIR4444-1, CERS6-AS1, XIRP2-AS1, SCHLAP1, ERICH2-DT, CHROMR, LOC101927055, LINC01934, LOC101929633, SCN1A-AS1, MYO3B-AS1, ITGA6-AS1, MIR6512, MIR7704, LOC102724058, LINC01117, HAGLROS, DLX2-DT, GPR155-DT, LOC105373759, PDE11A-AS1, EPCART, UBE2E3-DT, B3GALT1-AS1, LOC107126359, LOC108281145, SNORD3K, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120677, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC110121216, LOC111413009, LOC112806057, LOC112806058, LOC112806059, LOC112806060, LOC112806061, LOC112806062, LOC112806063, LOC115945201, LOC120977013, LOC120977014, LOC120977015, LOC120977016
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060248
2.
GRCh37:
Chr2:171264198-187054621
GRCh38:
Chr2:170407688-186189894
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060253
3.
GRCh37:
Chr2:172285743-190044294
GRCh38:
Chr2:171429233-189179568
See casesPathogenic
(Oct 14, 2010)
no assertion criteria providedVCV000147692
4.
GRCh37:
Chr2:175101179-182053573
GRCh38:
Chr2:174236451-181188846
See casesPathogenic
(Sep 18, 2013)
no assertion criteria providedVCV000155530
5.
GRCh37:
Chr2:175499230-189865690
GRCh38:
Chr2:174634502-189000964
See casesPathogenic
(Oct 14, 2010)
no assertion criteria providedVCV000147705
6.
GRCh37:
Chr2:175763576-204806271
GRCh38:
Chr2:174898848-203941548
ABI2, AGPS, ALS2, ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, AOX1, ASDURF, ASNSD1, ATF2, ATP5MC3, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf88, CALCRL, CHN1, FSIP2, HIBCH, HNRNPA3, INPP1, LINC01117, LOC100130452, LOC100130691, LOC112806062, LOC115945202, LOC115947632, LOC120977016, MIR1245B, MIR1246, MOB4, MPP4, NOP58, NUP35, PDE1A, PGAP1, PJVK, SNORA105B, SNORD11, TTC30B, PLCL1, PLEKHA3, LOC120977017, LOC120977018, SNORD11B, SNORD70, MIR1258, ITGA4, MSTN, LINC01473, LINC01790, WDR75, ZC3H15, LOC101927055, LOC105373759, CHROMR, CLK1, CALCRL-AS1, CARF, ORC2, ORMDL1, FSIP2-AS1, FSIP2-AS2, LOC112806063, LOC112806064, HOXD-AS2, HOXD1, CAVIN2-AS1, CCDC141, DIRC1, FTCDNL1, FZD7, HOXD10, HOXD11, ITGAV, LINC01792, LOC105373780, LOC105373782, LOC107126359, LOC112806065, LOC112806066, LOC120977019, LOC401021, LOC729254, MIR3128, MIR3129, MIR3606, MTX2, MYO1B, OSBPL6, PMS1, PPIL3, PPP1R1C, SNORD70B, SPATS2L, ZNF385B, ZNF804A, ZSWIM2, TMEM237, TRAK2, TTC30A, OSGEPL1, OSGEPL1-AS1, PDE11A, PDE11A-AS1, PRKRA, RAPH1, NBEAL1, NIF3L1, MIR4437, MIR4444-1, MIR548AE1, RBM45, RFTN2, NAB1, NABP1, NABP1-OT1, MIR561, MIR6512, MIR7704, MIR933, SLC39A10, SLC40A1, LOC112806067, LOC112806071, LOC112806073, TFPI, TMEFF2, MAIP1, MARS2, LOC108353821, LOC110120627, LOC110120628, LOC112806061, LINC01821, MFSD6, MIR10B, LOC108281145, LOC108281167, LINC01827, LINC01877, LINC01923, LINC01934, LNPK, MIR1245A, HOXD12, HOXD13, HOXD8, PCGEM1, ITPRID2, GULP1, HAGLR, HAGLROS, HECW2, HECW2-AS1, DNAH7, DNAJC10, LINC01090, LINC01116, GLS, GTF3C3, DUSP19, EPCART, CD28, CDK15, FRZB, KCTD18, KIAA2012, KIAA2012-AS1, CCDC150, LOC112806068, LOC112806069, LOC112806070, C2orf69, CERKL, CFLAR, CFLAR-AS1, HOXD3, HOXD4, CASP10, CASP8, CAVIN2, COL3A1, COL5A2, COQ10B, CTLA4, CWC22, CYP20A1, EVX2, FAM117B, FAM126B, FAM171B, FKBP7, FLACC1, HOXD9, HSPD1, HSPE1, HSPE1-MOB4, ICA1L, ICOS, NCKAP1, NDUFB3, NEMP2, NEMP2-DT, NEUROD1, NFE2L2, SATB2, SATB2-AS1, SCHLAP1, SESTD1, SF3B1, SGO2, STAT1, STAT4, STAT4-AS1, STK17B, STRADB, SUMO1, TTN, TTN-AS1, TYW5, UBE2E3, UBE2E3-DT, WDR12
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057301
7.
GRCh37:
Chr2:176951491-194066696
GRCh38:
Chr2:176086763-193201970
See casesPathogenic
(Jun 25, 2013)
no assertion criteria providedVCV000155417
8.
GRCh37:
Chr2:177169173-202904513
GRCh38:
Chr2:176304445-202039790
AGPS, ALS2, ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, AOX1, ASDURF, ASNSD1, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf88, CALCRL, CALCRL-AS1, CASP10, CASP8, CAVIN2, CAVIN2-AS1, CCDC141, CCDC150, CDK15, CERKL, CFLAR, CFLAR-AS1, CHROMR, CLK1, COL3A1, COL5A2, COQ10B, CWC22, DIRC1, DNAH7, DNAJC10, DUSP19, EPCART, FAM126B, FAM171B, FKBP7, FLACC1, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, FTCDNL1, FZD7, GLS, GTF3C3, GULP1, HECW2, HECW2-AS1, HIBCH, HNRNPA3, HSPD1, HSPE1, HSPE1-MOB4, INPP1, ITGA4, ITGAV, ITPRID2, KCTD18, LINC01090, LINC01116, LINC01117, LINC01473, LINC01790, LINC01792, LINC01821, LINC01827, LINC01877, LINC01923, LINC01934, LOC100130452, LOC100130691, LOC101927055, LOC105373759, LOC105373780, LOC105373782, LOC108281145, LOC108281167, LOC108353821, LOC110120628, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC115945202, LOC115947632, LOC120977016, LOC120977017, LOC120977018, LOC120977019, LOC729254, MAIP1, MARS2, MFSD6, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3129, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MOB4, MPP4, MSTN, MTX2, MYO1B, NAB1, NABP1, NABP1-OT1, NCKAP1, NDUFB3, NEMP2, NEMP2-DT, NEUROD1, NFE2L2, NIF3L1, NUP35, ORC2, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE11A-AS1, PDE1A, PGAP1, PJVK, PLCL1, PLEKHA3, PMS1, PPIL3, PPP1R1C, PRKRA, RBM45, RFTN2, SATB2, SATB2-AS1, SCHLAP1, SESTD1, SF3B1, SGO2, SLC39A10, SLC40A1, SNORA105B, SPATS2L, STAT1, STAT4, STAT4-AS1, STK17B, STRADB, TFPI, TMEFF2, TMEM237, TRAK2, TTC30A, TTC30B, TTN, TTN-AS1, TYW5, UBE2E3, UBE2E3-DT, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058770
9.
GRCh37:
Chr2:178692457-195990053
GRCh38:
Chr2:177827730-195125329
See casesPathogenic
(Mar 24, 2014)
no assertion criteria providedVCV000153288
10.
GRCh37:
Chr2:178738797-199390216
GRCh38:
Chr2:177874070-198525492
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058771
11.
GRCh37:
Chr2:179296804-179456251
GRCh38:
Chr2:178432077-178591524
PLEKHA3, PRKRA, TTN, TTN-AS1, CHROMR, FKBP7, PJVKDystonia 16Uncertain significance
(Jun 19, 2018)
criteria provided, single submitterVCV000583796
12.
GRCh37:
Chr2:179369675-179471511
GRCh38:
Chr2:178504948-178606784
TTN, PLEKHA3, TTN-AS1Dilated cardiomyopathy 1GLikely pathogenic
(Dec 4, 2017)
criteria provided, single submitterVCV000560108
13.
GRCh37:
Chr2:179390667
GRCh38:
Chr2:178525940
TTN, TTN-AS1not providedBenign
(May 19, 2021)
criteria provided, single submitterVCV001262402
14.
GRCh37:
Chr2:179390724
GRCh38:
Chr2:178525997
TTN, TTN-AS1Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000332662
15.
GRCh37:
Chr2:179390771
GRCh38:
Chr2:178526044
TTN-AS1, TTNTibial muscular dystrophy, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332663
16.
GRCh37:
Chr2:179390820
GRCh38:
Chr2:178526093
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332664
17.
GRCh37:
Chr2:179390826
GRCh38:
Chr2:178526099
TTN-AS1, TTNDilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332665
18.
GRCh37:
Chr2:179390841
GRCh38:
Chr2:178526114
TTN-AS1, TTNDilated cardiomyopathy 1G, Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000894547
19.
GRCh37:
Chr2:179391075
GRCh38:
Chr2:178526348
TTN-AS1, TTNDilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, not provided,
Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy
Benign/Likely benign
(May 23, 2021)
criteria provided, multiple submitters, no conflictsVCV000332666
20.
GRCh37:
Chr2:179391103
GRCh38:
Chr2:178526376
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332667
21.
GRCh37:
Chr2:179391106
GRCh38:
Chr2:178526379
TTN, TTN-AS1Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J,
Tibial muscular dystrophy, Myopathy, early-onset, with fatal cardiomyopathy
Uncertain significance
(Mar 16, 2018)
criteria provided, single submitterVCV000893121
22.
GRCh37:
Chr2:179391116
GRCh38:
Chr2:178526389
TTN-AS1, TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000332668
23.
GRCh37:
Chr2:179391152
GRCh38:
Chr2:178526425
TTN-AS1, TTNTibial muscular dystrophy, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000332669
24.
GRCh37:
Chr2:179391235
GRCh38:
Chr2:178526508
TTN-AS1, TTNDilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000894175
25.
GRCh37:
Chr2:179391459
GRCh38:
Chr2:178526732
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000332670
26.
GRCh37:
Chr2:179391465
GRCh38:
Chr2:178526738
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332671
27.
GRCh37:
Chr2:179391542
GRCh38:
Chr2:178526815
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332672
28.
GRCh37:
Chr2:179391556
GRCh38:
Chr2:178526829
TTN, TTN-AS1Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000893373
29.
GRCh37:
Chr2:179391598
GRCh38:
Chr2:178526871
TTN-AS1, TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000893374
30.
GRCh37:
Chr2:179391609
GRCh38:
Chr2:178526882
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000332673
31.
GRCh37:
Chr2:179391639-179391640
GRCh38:
Chr2:178526912-178526913
TTN-AS1, TTNMyopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy, not provided,
Myopathy, myofibrillar, 9, with early respiratory failure, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
Benign/Likely benign
(Aug 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000332674
32.
GRCh37:
Chr2:179391640
GRCh38:
Chr2:178526913
TTN, TTN-AS1not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001204371
33.
GRCh37:
Chr2:179391680
GRCh38:
Chr2:178526953
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000332675
34.
GRCh37:
Chr2:179391696
GRCh38:
Chr2:178526969
TTN, TTN-AS1not providedLikely benign
(Jul 14, 2018)
criteria provided, single submitterVCV001214912
35.
GRCh37:
Chr2:179391714
GRCh38:
Chr2:178526987
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000332676
36.
GRCh37:
Chr2:179391733
GRCh38:
Chr2:178527006
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, not specified, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
not provided
Conflicting interpretations of pathogenicity
(Mar 17, 2020)
criteria provided, conflicting interpretationsVCV000332677
37.
GRCh37:
Chr2:179391744
GRCh38:
Chr2:178527017
TTN, TTN-AS1I26926fs, I27051fs, I35991fs, I33423fs, I27118fs, I34350fsnot providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitterVCV000191803
38.
GRCh37:
Chr2:179391750
GRCh38:
Chr2:178527023
TTN-AS1, TTNR34348*, R35989*, R33421*, R27116*, R26924*, R27049*Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Oct 21, 2019)
criteria provided, single submitterVCV000202530
39.
GRCh37:
Chr2:179391754
GRCh38:
Chr2:178527027
TTN, TTN-AS1Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Cardiovascular phenotype, Myopathy, myofibrillar, 9, with early respiratory failure,
not provided, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
not specified, Cardiomyopathy ...see more
Conflicting interpretations of pathogenicity
(Dec 3, 2020)
criteria provided, conflicting interpretationsVCV000178150
40.
GRCh37:
Chr2:179391758
GRCh38:
Chr2:178527031
TTN-AS1, TTNI35986T, I27046T, I27113T, I33418T, I26921T, I34345TLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Mar 17, 2020)
criteria provided, single submitterVCV000405041
41.
GRCh37:
Chr2:179391759
GRCh38:
Chr2:178527032
TTN, TTN-AS1I35986V, I34345V, I27046V, I33418V, I26921V, I27113Vnot providedUncertain significance
(Nov 1, 2016)
criteria provided, single submitterVCV000425238
42.
GRCh37:
Chr2:179391800
GRCh38:
Chr2:178527073
TTN, TTN-AS1S35972I, S33404I, S34331I, S27032I, S27099I, S26907Inot specified, not providedConflicting interpretations of pathogenicity
(Dec 3, 2018)
criteria provided, conflicting interpretationsVCV000046575
43.
GRCh37:
Chr2:179391802
GRCh38:
Chr2:178527075
TTN, TTN-AS1Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Feb 27, 2019)
criteria provided, single submitterVCV000763442
44.
GRCh37:
Chr2:179391803
GRCh38:
Chr2:178527076
TTN-AS1, TTNL27098Q, L26906Q, L33403Q, L27031Q, L34330Q, L35971QDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Dec 31, 2019)
criteria provided, single submitterVCV000862999
45.
GRCh37:
Chr2:179391806
GRCh38:
Chr2:178527079
TTN, TTN-AS1T33402I, T27030I, T27097I, T35970I, T26905I, T34329IDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Aug 6, 2020)
criteria provided, single submitterVCV001036246
46.
GRCh37:
Chr2:179391812
GRCh38:
Chr2:178527085
TTN-AS1, TTNL33400P, L34327P, L26903P, L27095P, L35968P, L27028PDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Feb 7, 2020)
criteria provided, single submitterVCV000850701
47.
GRCh37:
Chr2:179391815
GRCh38:
Chr2:178527088
TTN, TTN-AS1G35967E, G27094E, G34326E, G33399E, G26902E, G27027EDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, none provided
Uncertain significance
(Jun 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000535041
48.
GRCh37:
Chr2:179391818
GRCh38:
Chr2:178527091
TTN, TTN-AS1G33398D, G35966D, G26901D, G27026D, G34325D, G27093Dnot specifiedUncertain significance
(Mar 14, 2014)
criteria provided, single submitterVCV000179634
49.
GRCh37:
Chr2:179391818-179391823
GRCh38:
Chr2:178527091-178527096
TTN, TTN-AS1Tibial muscular dystrophyPathogenic
(Aug 23, 2012)
no assertion criteria providedVCV000038441
50.
GRCh37:
Chr2:179391821
GRCh38:
Chr2:178527094
TTN, TTN-AS1D33397G, D35965G, D26900G, D27025G, D27092G, D34324Gnot providedUncertain significance
(May 8, 2018)
criteria provided, single submitterVCV000284110
51.
GRCh37:
Chr2:179391825
GRCh38:
Chr2:178527098
TTN, TTN-AS1Q33396*, Q34323*, Q35964*, Q27024*, Q27091*, Q26899*Tibial muscular dystrophyPathogenic
(Aug 23, 2012)
no assertion criteria providedVCV000038440
52.
GRCh37:
Chr2:179391826
GRCh38:
Chr2:178527099
TTN, TTN-AS1K27023fs, K27090fs, K26898fs, K35963fs, K33395fs, K34322fsLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, not provided
Pathogenic
(Mar 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000038439
53.
GRCh37:
Chr2:179391834
GRCh38:
Chr2:178527107
TTN-AS1, TTNV35961I, V33393I, V26896I, V27021I, V34320I, V27088ILimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Dec 1, 2017)
criteria provided, single submitterVCV000535484
54.
GRCh37:
Chr2:179391835
GRCh38:
Chr2:178527108
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JLikely benign
(May 20, 2020)
criteria provided, single submitterVCV001077879
55.
GRCh37:
Chr2:179391844
GRCh38:
Chr2:178527117
TTN, TTN-AS1Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000698656
56.
GRCh37:
Chr2:179391846
GRCh38:
Chr2:178527119
TTN, TTN-AS1I26892F, I27017F, I27084F, I33389F, I34316F, I35957FDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Jan 6, 2020)
criteria provided, single submitterVCV001002869
57.
GRCh37:
Chr2:179391848
GRCh38:
Chr2:178527121
TTN, TTN-AS1L27016fs, L27083fs, L33388fs, L26891fs, L34315fs, L35956fsno interpretation for the single variantno interpretation for the single variantVCV000242432
58.
GRCh37:
Chr2:179391848
GRCh38:
Chr2:178527121
TTN, TTN-AS1L34315P, L33388P, L35956P, L27016P, L26891P, L27083PDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy
Likely pathogenic
(Feb 28, 2020)
criteria provided, single submitterVCV000012653
59.
GRCh37:
Chr2:179391851
GRCh38:
Chr2:178527124
TTN, TTN-AS1T35955I, T27015I, T26890I, T33387I, T34314I, T27082ILimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Feb 15, 2017)
criteria provided, single submitterVCV000466774
60.
GRCh37:
Chr2:179391857
GRCh38:
Chr2:178527130
TTN, TTN-AS1L34312R, L35953R, L27013R, L33385R, L26888R, L27080Rnot specifiedUncertain significance
(Nov 7, 2014)
criteria provided, single submitterVCV000203119
61.
GRCh37:
Chr2:179391871-179392014
GRCh38:
Chr2:178527144-178527287
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Apr 21, 2020)
criteria provided, single submitterVCV001037495
62.
GRCh37:
Chr2:179391875
GRCh38:
Chr2:178527148
TTN-AS1, TTNI34306S, I35947S, I27007S, I33379S, I26882S, I27074Snot provided, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G
Conflicting interpretations of pathogenicity
(Feb 3, 2017)
criteria provided, conflicting interpretationsVCV000389846
63.
GRCh37:
Chr2:179391875
GRCh38:
Chr2:178527148
TTN, TTN-AS1I35947T, I33379T, I26882T, I34306T, I27007T, I27074TDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy
Uncertain significance
(Dec 22, 2019)
criteria provided, single submitterVCV000056386
64.
GRCh37:
Chr2:179391875
GRCh38:
Chr2:178527148
TTN, TTN-AS1I33379N, I34306N, I35947N, I27007N, I27074N, I26882NDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy
Uncertain significance
(Jul 1, 2020)
criteria provided, single submitterVCV000012654
65.
GRCh37:
Chr2:179391876
GRCh38:
Chr2:178527149
TTN, TTN-AS1I35947V, I26882V, I27007V, I34306V, I27074V, I33379VLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Mar 8, 2017)
criteria provided, single submitterVCV000466773
66.
GRCh37:
Chr2:179391878
GRCh38:
Chr2:178527151
TTN, TTN-AS1H33378P, H34305P, H35946P, H27073P, H26881P, H27006PTibial muscular dystrophyPathogenic
(Dec 19, 2019)
no assertion criteria providedVCV000038438
67.
GRCh37:
Chr2:179391879
GRCh38:
Chr2:178527152
TTN, TTN-AS1H27073Y, H26881Y, H33378Y, H27006Y, H34305Y, H35946YLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Sep 11, 2020)
criteria provided, single submitterVCV001045005
68.
GRCh37:
Chr2:179391882
GRCh38:
Chr2:178527155
TTN, TTN-AS1F27072I, F34304I, F27005I, F26880I, F33377I, F35945IDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Jan 26, 2019)
criteria provided, single submitterVCV000653902
69.
GRCh37:
Chr2:179391883
GRCh38:
Chr2:178527156
TTN, TTN-AS1not providedUncertain significance
(Oct 13, 2017)
criteria provided, single submitterVCV000594280
70.
GRCh37:
Chr2:179391915
GRCh38:
Chr2:178527188
TTN, TTN-AS1G35934R, G26869R, G26994R, G33366R, G27061R, G34293RDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000967965
71.
GRCh37:
Chr2:179391915
GRCh38:
Chr2:178527188
TTN-AS1, TTNG34293*, G33366*, G35934*, G26869*, G26994*, G27061*not provided, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J
Conflicting interpretations of pathogenicity
(Sep 15, 2019)
criteria provided, conflicting interpretationsVCV000282175
72.
GRCh37:
Chr2:179391917
GRCh38:
Chr2:178527190
TTN, TTN-AS1G26993D, G26868D, G27060D, G33365D, G34292D, G35933DDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Jun 20, 2019)
criteria provided, single submitterVCV000935542
73.
GRCh37:
Chr2:179391918
GRCh38:
Chr2:178527191
TTN, TTN-AS1G34292R, G26868R, G26993R, G33365R, G27060R, G35933RLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Feb 21, 2020)
criteria provided, single submitterVCV001043872
74.
GRCh37:
Chr2:179391925-179391935
GRCh38:
Chr2:178527198-178527208
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not provided,
Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J
Pathogenic
(Dec 23, 2019)
criteria provided, multiple submitters, no conflictsVCV000012652
75.
GRCh37:
Chr2:179391926
GRCh38:
Chr2:178527199
TTN, TTN-AS1W26865*, W26990*, W27057*, W33362*, W34289*, W35930*Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely pathogenic
(Jun 18, 2020)
criteria provided, single submitterVCV001067903
76.
GRCh37:
Chr2:179391927
GRCh38:
Chr2:178527200
TTN, TTN-AS1W33362R, W35930R, W26865R, W27057R, W26990R, W34289Rnot provided, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Jan 18, 2017)
criteria provided, single submitterVCV000499087
77.
GRCh37:
Chr2:179391932
GRCh38:
Chr2:178527205
TTN, TTN-AS1V35928E, V34287E, V26863E, V26988E, V27055E, V33360Enot providedUncertain significance
(Jul 8, 2015)
criteria provided, single submitterVCV000281698
78.
GRCh37:
Chr2:179391941
GRCh38:
Chr2:178527214
TTN-AS1, TTNT35925I, T26985I, T26860I, T27052I, T33357I, T34284ILimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Apr 20, 2017)
criteria provided, single submitterVCV000466772
79.
GRCh37:
Chr2:179391941
GRCh38:
Chr2:178527214
TTN-AS1, TTNT35925N, T26985N, T33357N, T26860N, T34284N, T27052NLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Mar 22, 2017)
criteria provided, single submitterVCV000466771
80.
GRCh37:
Chr2:179391942
GRCh38:
Chr2:178527215
TTN-AS1, TTNT34284A, T35925A, T26985A, T26860A, T27052A, T33357ADilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
Uncertain significance
(Jul 22, 2020)
criteria provided, multiple submitters, no conflictsVCV000203118
81.
GRCh37:
Chr2:179391949
GRCh38:
Chr2:178527222
TTN, TTN-AS1not provided, Dilated cardiomyopathy 1G, not specified,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jul 18, 2021)
criteria provided, conflicting interpretationsVCV000046574
82.
GRCh37:
Chr2:179391953
GRCh38:
Chr2:178527226
TTN-AS1, TTNT26856K, T26981K, T27048K, T33353K, T34280K, T35921KDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Mar 8, 2020)
criteria provided, single submitterVCV001001809
83.
GRCh37:
Chr2:179391954
GRCh38:
Chr2:178527227
TTN, TTN-AS1T33353P, T35921P, T26981P, T26856P, T27048P, T34280Pnot providedUncertain significance
(Nov 10, 2017)
criteria provided, single submitterVCV000594863
84.
GRCh37:
Chr2:179391962
GRCh38:
Chr2:178527235
TTN, TTN-AS1C35918Y, C33350Y, C34277Y, C26853Y, C27045Y, C26978Ynot specified, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Cardiomyopathy, not provided
Conflicting interpretations of pathogenicity
(Feb 24, 2021)
criteria provided, conflicting interpretationsVCV000046573
85.
GRCh37:
Chr2:179391963
GRCh38:
Chr2:178527236
TTN, TTN-AS1C26853R, C26978R, C27045R, C33350R, C34277R, C35918Rnot providedUncertain significance
(Jun 1, 2021)
criteria provided, single submitterVCV001175968
86.
GRCh37:
Chr2:179391987
GRCh38:
Chr2:178527260
TTN, TTN-AS1E33342K, E35910K, E26970K, E26845K, E27037K, E34269Knot specifiedUncertain significance
(May 28, 2015)
criteria provided, single submitterVCV000212459
87.
GRCh37:
Chr2:179391989
GRCh38:
Chr2:178527262
TTN-AS1, TTND27036G, D26844G, D26969G, D33341G, D35909G, D34268GDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Aug 7, 2019)
criteria provided, single submitterVCV000950914
88.
GRCh37:
Chr2:179391991
GRCh38:
Chr2:178527264
TTN-AS1, TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Oct 11, 2017)
criteria provided, single submitterVCV000466770
89.
GRCh37:
Chr2:179391992
GRCh38:
Chr2:178527265
TTN, TTN-AS1I26843T, I26968T, I27035T, I33340T, I34267T, I35908TDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not provided
Uncertain significance
(Sep 28, 2020)
criteria provided, single submitterVCV001007868
90.
GRCh37:
Chr2:179391994
GRCh38:
Chr2:178527267
TTN-AS1, TTNS26842R, S33339R, S27034R, S35907R, S26967R, S34266RCardiomyopathyUncertain significance
(Feb 1, 2018)
criteria provided, single submitterVCV000915799
91.
GRCh37:
Chr2:179391998
GRCh38:
Chr2:178527271
TTN-AS1, TTNI34265T, I27033T, I33338T, I26841T, I26966T, I35906TLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Aug 14, 2019)
criteria provided, single submitterVCV000944777
92.
GRCh37:
Chr2:179391999
GRCh38:
Chr2:178527272
TTN-AS1, TTNI35906V, I33338V, I26966V, I27033V, I34265V, I26841Vnot providedUncertain significance
(Sep 22, 2017)
criteria provided, single submitterVCV000592896
93.
GRCh37:
Chr2:179392001
GRCh38:
Chr2:178527274
TTN-AS1, TTND33337G, D34264G, D26840G, D26965G, D27032G, D35905GDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Nov 28, 2019)
criteria provided, single submitterVCV000846480
94.
GRCh37:
Chr2:179392005-179392038
GRCh38:
Chr2:178527278-178527311
TTN, TTN-AS1not providedLikely pathogenic
(Jun 20, 2016)
criteria provided, single submitterVCV000503512
95.
GRCh37:
Chr2:179392015
GRCh38:
Chr2:178527288
TTN-AS1, TTNTibial muscular dystrophy, Myopathy, early-onset, with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Limb-girdle muscular dystrophy, type 2J,
Cardiomyopathy, not provided, Cardiovascular phenotype,
Dilated cardiomyopathy 1G, not specifiednone provided,
...see more
Benign/Likely benign
(Nov 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000047723
96.
GRCh37:
Chr2:179392019
GRCh38:
Chr2:178527292
TTN, TTN-AS1I26834T, I26959T, I27026T, I33331T, I34258T, I35899TPrimary dilated cardiomyopathyLikely benigncriteria provided, single submitterVCV000978741
97.
GRCh37:
Chr2:179392025
GRCh38:
Chr2:178527298
TTN, TTN-AS1P35897L, P33329L, P27024L, P34256L, P26832L, P26957Lnot providedUncertain significance
(Jun 21, 2018)
criteria provided, single submitterVCV000597642
98.
GRCh37:
Chr2:179392027
GRCh38:
Chr2:178527300
TTN, TTN-AS1not specified, not provided, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J
Benign/Likely benign
(Oct 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000220650
99.
GRCh37:
Chr2:179392028
GRCh38:
Chr2:178527301
TTN-AS1, TTNP26831L, P33328L, P27023L, P26956L, P34255L, P35896LDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Sep 24, 2020)
criteria provided, single submitterVCV000834283
100.
GRCh37:
Chr2:179392031
GRCh38:
Chr2:178527304
TTN, TTN-AS1I26830T, I26955T, I27022T, I33327T, I34254T, I35895TDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Mar 5, 2020)
criteria provided, single submitterVCV001053338
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