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Items: 1 to 100 of 13935

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:23901031
GRCh38:
Chr14:23431822
MYH7Q193RCardiomyopathyLikely pathogenicno assertion criteria provided
2.
GRCh37:
Chr14:104027180-104027181
GRCh38:
Chr14:103560843-103560844
BAG5K108fsCardiomyopathyLikely pathogenicno assertion criteria provided
3.
GRCh37:
Chr11:47356592
GRCh38:
Chr11:47335041
MYBPC3CardiomyopathyLikely pathogenicno assertion criteria provided
4.
GRCh37:
Chr2:179431049-179431050
GRCh38:
Chr2:178566322-178566323
TTN-AS1, TTNV17539fs, V17664fs, V17731fs, V24036fs, V24963fs, V26604fsCardiomyopathyLikely pathogenicno assertion criteria provided
5.
GRCh37:
Chr14:23884343
GRCh38:
Chr14:23415134
MYH7G1807fsCardiomyopathyUncertain significance
(Nov 26, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr1:78408164
GRCh38:
Chr1:77942479
NEXNE496Q, E560QCardiomyopathyUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr1:78407761
GRCh38:
Chr1:77942076
NEXNCardiomyopathyLikely benign
(Sep 21, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr1:78401527
GRCh38:
Chr1:77935842
NEXNT360N, T424NCardiomyopathyUncertain significance
(Jun 2, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr10:75877872
GRCh38:
Chr10:74118114
VCLR1049Q, R1117QCardiomyopathyUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr15:63354799
GRCh38:
Chr15:63062600
TPM1E207K, E243K, E285KCardiomyopathyUncertain significance
(Oct 18, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr11:47372960
GRCh38:
Chr11:47351409
MYBPC3R41LCardiomyopathyUncertain significance
(Oct 8, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr11:47364180
GRCh38:
Chr11:47342629
MYBPC3Y525fsCardiomyopathyLikely pathogenic
(Sep 2, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr11:47356732
GRCh38:
Chr11:47335181
MYBPC3CardiomyopathyLikely benign
(Aug 10, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr11:47356599-47356600
GRCh38:
Chr11:47335048-47335049
MYBPC3CardiomyopathyUncertain significance
(Sep 13, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr11:47354806-47354810
GRCh38:
Chr11:47333255-47333259
MYBPC3P1089fsCardiomyopathyLikely pathogenic
(Aug 7, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr11:47354450
GRCh38:
Chr11:47332899
MYBPC3CardiomyopathyLikely benign
(Jun 2, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr11:47354383-47354384
GRCh38:
Chr11:47332832-47332833
MYBPC3V1158fsCardiomyopathyLikely pathogenic
(Jun 23, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr11:47353810-47356592
GRCh38:
Chr11:47332259-47335041
MYBPC3CardiomyopathyPathogenic
(Nov 18, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr11:47353420
GRCh38:
Chr11:47331869
MYBPC3CardiomyopathyUncertain significance
(Oct 26, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr3:38645331
GRCh38:
Chr3:38603840
SCN5AH588YCardiomyopathyUncertain significance
(Oct 22, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr15:35084457-35084468
GRCh38:
Chr15:34792256-34792267
GJD2-DT, ACTC1CardiomyopathyUncertain significance
(Nov 1, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr12:33049443
GRCh38:
Chr12:32896509
PKP2G75*CardiomyopathyLikely pathogenic
(Oct 12, 2021)
criteria provided, single submitter
23.
GRCh38:
Chr12:32843315-32868927
PKP2CardiomyopathyLikely pathogenic
(Jul 16, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr12:32955419-32955420
GRCh38:
Chr12:32802485-32802486
PKP2H695fs, H739fsCardiomyopathyLikely pathogenic
(Aug 11, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr16:30907998-30907999
GRCh38:
Chr16:30896677-30896678
CTF1CardiomyopathyLikely benign
(Jun 2, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr18:29115333
GRCh38:
Chr18:31535370
DSG2Q461ECardiomyopathyUncertain significance
(Jun 9, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr14:23898460
GRCh38:
Chr14:23429251
MYH7T412NCardiomyopathyUncertain significance
(Jun 18, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr14:23896978
GRCh38:
Chr14:23427769
MYH7N568KCardiomyopathyUncertain significance
(Nov 10, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr14:23891504
GRCh38:
Chr14:23422295
MYH7V1044MCardiomyopathyUncertain significance
(Oct 5, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr1:236902646
GRCh38:
Chr1:236739346
ACTN2CardiomyopathyLikely benign
(Jun 4, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr2:220286242
GRCh38:
Chr2:219421520
DESI258F, I312F, I379F, I395F, I401F, I402FCardiomyopathyUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr2:220283410-220283412
GRCh38:
Chr2:219418688-219418690
DEST77delCardiomyopathyUncertain significance
(Oct 1, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr12:21995408
GRCh38:
Chr12:21842474
ABCC9CardiomyopathyUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr11:19209860
GRCh38:
Chr11:19188313
CSRP3CardiomyopathyUncertain significance
(Jun 3, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr18:29116254
GRCh38:
Chr18:31536291
DSG2T505ACardiomyopathyUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr2:179643752
GRCh38:
Chr2:178779025
LOC101927055, TTNV1307L, V1353LCardiomyopathyUncertain significance
(Oct 13, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr2:179635300
GRCh38:
Chr2:178770573
TTNW2694*, W2740*CardiomyopathyLikely pathogenic
(Nov 15, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr2:179606027
GRCh38:
Chr2:178741300
TTNL3615R, L3661R, L3740R, L3807R, L3978RCardiomyopathyUncertain significance
(Sep 8, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr2:179599199
GRCh38:
Chr2:178734472
TTNS3874R, S4801R, S5118RCardiomyopathyUncertain significance
(Oct 25, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr2:179594867
GRCh38:
Chr2:178730140
LOC126806430, TTNS4843N, S5770N, S6087NCardiomyopathyUncertain significance
(Jun 28, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr2:179593838
GRCh38:
Chr2:178729111
LOC126806430, TTNCardiomyopathyLikely benign
(Jul 21, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr2:179591944
GRCh38:
Chr2:178727217
LOC126806429, TTNM5472I, M6399I, M6716ICardiomyopathyUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr2:179583108
GRCh38:
Chr2:178718381
TTNS6998N, S7925N, S8242NCardiomyopathyUncertain significance
(Aug 9, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr2:179579783
GRCh38:
Chr2:178715056
TTNCardiomyopathyLikely benign
(Oct 25, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr2:179560921
GRCh38:
Chr2:178696194
TTNQ10293R, Q9049R, Q9976RCardiomyopathyLikely benign
(Aug 30, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr2:179557268-179557269
GRCh38:
Chr2:178692541-178692542
TTNA10228fs, A10545fs, A9301fsCardiomyopathyUncertain significance
(Sep 3, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr2:179544685-179544687
GRCh38:
Chr2:178679958-178679960
TTNE10855del, E11172del, E9928delCardiomyopathyUncertain significance
(Nov 29, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr2:179527750
GRCh38:
Chr2:178663023
TTNP10506A, P11433A, P12245ACardiomyopathyUncertain significance
(Jun 1, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr2:179517225
GRCh38:
Chr2:178652498
TTNCardiomyopathyLikely benign
(Sep 13, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr2:179517071
GRCh38:
Chr2:178652344
TTNP10610H, P11537H, P13044HCardiomyopathyUncertain significance
(Sep 13, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr2:179517030
GRCh38:
Chr2:178652303
TTNV10624M, V11551M, V13058MCardiomyopathyUncertain significance
(Oct 22, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr2:179497991
GRCh38:
Chr2:178633264
TTNH11769fs, H12696fs, H14337fs, H5272fs, H5397fs, H5464fsCardiomyopathyUncertain significance
(Nov 9, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr2:179481306
GRCh38:
Chr2:178616579
TTN, TTN-AS1S13503*, S14430*, S16071*, S7006*, S7131*, S7198*CardiomyopathyLikely pathogenic
(Nov 4, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr2:179479649
GRCh38:
Chr2:178614922
LOC126806426, TTN, TTN-AS1V13661M, V14588M, V16229M, V7164M, V7289M, V7356MCardiomyopathyUncertain significance
(Nov 16, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr2:179474978
GRCh38:
Chr2:178610251
TTN-AS1, TTNR14524K, R15451K, R17092K, R8027K, R8152K, R8219KCardiomyopathyLikely benign
(Oct 13, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr2:179464473
GRCh38:
Chr2:178599746
TTN, TTN-AS1F16151L, F17078L, F18719L, F9654L, F9779L, F9846LCardiomyopathyLikely benign
(Oct 13, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr2:179462731
GRCh38:
Chr2:178598004
TTN, TTN-AS1G10116*, G10183*, G16488*, G17415*, G19056*, G9991*CardiomyopathyLikely pathogenic
(Oct 12, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr2:179457903
GRCh38:
Chr2:178593176
TTN-AS1, TTNI10613V, I10738V, I10805V, I17110V, I18037V, I19678VCardiomyopathyUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr2:179455997
GRCh38:
Chr2:178591270
TTN, TTN-AS1T11087I, T11212I, T11279I, T17584I, T18511I, T20152ICardiomyopathyUncertain significance
(Sep 28, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr2:179455499
GRCh38:
Chr2:178590772
TTN, TTN-AS1V11253A, V11378A, V11445A, V17750A, V18677A, V20318ACardiomyopathyUncertain significance
(Aug 16, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr2:179455280
GRCh38:
Chr2:178590553
TTN, TTN-AS1V11326E, V11451E, V11518E, V17823E, V18750E, V20391ECardiomyopathyUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr2:179451927
GRCh38:
Chr2:178587200
TTN, TTN-AS1CardiomyopathyLikely benign
(Oct 13, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr2:179451388
GRCh38:
Chr2:178586661
TTN, TTN-AS1R12349C, R12474C, R12541C, R18846C, R19773C, R21414CCardiomyopathyUncertain significance
(Jun 23, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr2:179449807
GRCh38:
Chr2:178585080
TTN, TTN-AS1V12490A, V12615A, V12682A, V18987A, V19914A, V21555ACardiomyopathyUncertain significance
(Jun 3, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr2:179447733-179447734
GRCh38:
Chr2:178583006-178583007
TTN, TTN-AS1D12868fs, D12993fs, D13060fs, D19365fs, D20292fs, D21933fsCardiomyopathyLikely pathogenic
(Nov 1, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr2:179446466-179446467
GRCh38:
Chr2:178581739-178581740
TTN, TTN-AS1W13112fs, W13237fs, W13304fs, W19609fs, W20536fs, W22177fsCardiomyopathyLikely pathogenic
(Jun 18, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr2:179443706
GRCh38:
Chr2:178578979
LOC126806423, TTN, TTN-AS1R13619K, R13744K, R13811K, R20116K, R21043K, R22684KCardiomyopathyUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr2:179440883
GRCh38:
Chr2:178576156
LOC126806422, TTN, TTN-AS1E14261K, E14386K, E14453K, E20758K, E21685K, E23326KCardiomyopathyUncertain significance
(Sep 28, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr2:179436118
GRCh38:
Chr2:178571391
TTN, TTN-AS1T15849I, T15974I, T16041I, T22346I, T23273I, T24914ICardiomyopathyUncertain significance
(Sep 9, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr2:179435716
GRCh38:
Chr2:178570989
TTN, TTN-AS1L15983S, L16108S, L16175S, L22480S, L23407S, L25048SCardiomyopathyUncertain significance
(Jun 8, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr2:179434823
GRCh38:
Chr2:178570096
TTN, TTN-AS1K16281*, K16406*, K16473*, K22778*, K23705*, K25346*CardiomyopathyUncertain significance
(Aug 10, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr2:179434083
GRCh38:
Chr2:178569356
TTN, TTN-AS1CardiomyopathyLikely benign
(Nov 1, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr2:179431135
GRCh38:
Chr2:178566408
TTN, TTN-AS1T17510I, T17635I, T17702I, T24007I, T24934I, T26575ICardiomyopathyLikely benign
(Sep 22, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr2:179430111
GRCh38:
Chr2:178565384
TTN, TTN-AS1CardiomyopathyLikely benign
(Aug 16, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr2:179428736
GRCh38:
Chr2:178564009
TTN, TTN-AS1G18310R, G18435R, G18502R, G24807R, G25734R, G27375RCardiomyopathyUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr2:179428322
GRCh38:
Chr2:178563595
TTN, TTN-AS1G18448R, G18573R, G18640R, G24945R, G25872R, G27513RCardiomyopathyUncertain significance
(Jun 4, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr2:179427947
GRCh38:
Chr2:178563220
TTN, TTN-AS1E18573fs, E18698fs, E18765fs, E25070fs, E25997fs, E27638fsCardiomyopathyLikely pathogenic
(Sep 21, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr18:29175111
GRCh38:
Chr18:31595148
TTRL78fsCardiomyopathyUncertain significance
(Dec 6, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr2:179415858
GRCh38:
Chr2:178551131
TTN, TTN-AS1R21402P, R21527P, R21594P, R27899P, R28826P, R30467PCardiomyopathyUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr2:179414051
GRCh38:
Chr2:178549324
TTN, TTN-AS1K21703E, K21828E, K21895E, K28200E, K29127E, K30768ECardiomyopathyUncertain significance
(Jun 23, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr2:179410243-179410244
GRCh38:
Chr2:178545516-178545517
TTN, TTN-AS1D22800fs, D22925fs, D22992fs, D29297fs, D30224fs, D31865fsCardiomyopathyLikely pathogenic
(Sep 24, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr2:179404842
GRCh38:
Chr2:178540115
TTN, TTN-AS1G23619D, G23744D, G23811D, G30116D, G31043D, G32684DCardiomyopathyUncertain significance
(Jun 16, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr2:179399662
GRCh38:
Chr2:178534935
TTN, TTN-AS1F24829L, F24954L, F25021L, F31326L, F32253L, F33894LCardiomyopathyUncertain significance
(Nov 19, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr2:179398570
GRCh38:
Chr2:178533843
TTN, TTN-AS1P25193T, P25318T, P25385T, P31690T, P32617T, P34258TCardiomyopathyUncertain significance
(Jul 22, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr2:179398432
GRCh38:
Chr2:178533705
TTN, TTN-AS1D25239N, D25364N, D25431N, D31736N, D32663N, D34304NCardiomyopathyUncertain significance
(Aug 16, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr2:179397940
GRCh38:
Chr2:178533213
TTN, TTN-AS1E25403K, E25528K, E25595K, E31900K, E32827K, E34468KCardiomyopathyUncertain significance
(Nov 8, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr2:179393616
GRCh38:
Chr2:178528889
TTN, TTN-AS1G26556A, G26681A, G26748A, G33053A, G33980A, G35621ACardiomyopathyUncertain significance
(Jun 29, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr11:47369455-47369456
GRCh38:
Chr11:47347904-47347905
MYBPC3CardiomyopathyLikely pathogenic
(Dec 29, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr1:78383848
GRCh38:
Chr1:77918163
LOC126805765, NEXNR113G, R49GCardiomyopathyUncertain significance
(Feb 16, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr10:75867092
GRCh38:
Chr10:74107334
VCLP847ACardiomyopathyUncertain significance
(May 24, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:7581027
GRCh38:
Chr6:7580794
DSPL1535PCardiomyopathyUncertain significance
(May 19, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:7565612-7565613
GRCh38:
Chr6:7565379-7565380
DSPN274fsCardiomyopathyLikely pathogenic
(Apr 4, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:47371600
GRCh38:
Chr11:47350049
MYBPC3F157YCardiomyopathyUncertain significance
(Feb 11, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr11:47367831
GRCh38:
Chr11:47346280
MYBPC3CardiomyopathyUncertain significance
(May 13, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:47364847
GRCh38:
Chr11:47343296
MYBPC3CardiomyopathyLikely benign
(Feb 22, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:47363654
GRCh38:
Chr11:47342103
MYBPC3D560HCardiomyopathyUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr11:47363566
GRCh38:
Chr11:47342015
MYBPC3R589LCardiomyopathyUncertain significance
(Feb 22, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr17:39923842
GRCh38:
Chr17:41767590
JUPCardiomyopathyUncertain significance
(Nov 26, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr15:35084709
GRCh38:
Chr15:34792508
ACTC1, GJD2-DTCardiomyopathyLikely benign
(May 30, 2022)
criteria provided, single submitter
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