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Items: 1 to 100 of 477

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:47371588
GRCh38:
Chr11:47350037
MYBPC3P161RHypertrophic cardiomyopathy 4Likely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr11:47372071
GRCh38:
Chr11:47350520
MYBPC3S130fsHypertrophic cardiomyopathy 4Pathogenic
(Feb 23, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr11:47360139
GRCh38:
Chr11:47338588
MYBPC3G747fsHypertrophic cardiomyopathy 4Likely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr11:47373057
GRCh38:
Chr11:47351506
MYBPC3Hypertrophic cardiomyopathy 4Likely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr11:47361200
GRCh38:
Chr11:47339649
MYBPC3Hypertrophic cardiomyopathy 4Likely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr11:47365150-47365153
GRCh38:
Chr11:47343599-47343602
MYBPC3A372fsHypertrophic cardiomyopathy 4Likely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr11:47353759-47353760
GRCh38:
Chr11:47332208-47332209
MYBPC3F1227fsHypertrophic cardiomyopathy 4Pathogenic
(Feb 23, 2023)
criteria provided, single submitter
8.
GRCh37:
Chr3:12626623
GRCh38:
Chr3:12585124
RAF1Q442E, Q475E, Q495E, Q523E, Q556E, Q576ERASopathyUncertain significance
(May 27, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr11:47357436
GRCh38:
Chr11:47335885
MYBPC3P910fsHypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
Pathogenic
(May 18, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:47354384
GRCh38:
Chr11:47332833
MYBPC3V1158fsHypertrophic cardiomyopathy 4Likely pathogenic
(Mar 9, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr11:47354842-47354848
GRCh38:
Chr11:47333291-47333297
MYBPC3D1076fsHypertrophic cardiomyopathy 4Likely pathogenic
(Feb 14, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr11:47359241
GRCh38:
Chr11:47337690
MYBPC3G805SHypertrophic cardiomyopathy 4Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:47359095
GRCh38:
Chr11:47337544
MYBPC3R817fsHypertrophic cardiomyopathy 4Likely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:47364157-47364158
GRCh38:
Chr11:47342606-47342607
MYBPC3Q533fsHypertrophic cardiomyopathy 4Likely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:47353632
GRCh38:
Chr11:47332081
MYBPC3E1269*Hypertrophic cardiomyopathy 4Pathogenic
(Sep 1, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:47369457
GRCh38:
Chr11:47347906
MYBPC3Hypertrophic cardiomyopathy 4Likely pathogenic
(Apr 13, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr11:47364226-47364227
GRCh38:
Chr11:47342675-47342676
MYBPC3R509fsHypertrophic cardiomyopathy 4Likely pathogenic
(May 22, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:47355130
GRCh38:
Chr11:47333579
MYBPC3T1057fsHypertrophic cardiomyopathy 4Likely pathogenic
(May 22, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:47353666-47353669
GRCh38:
Chr11:47332115-47332118
MYBPC3N1257fsHypertrophic cardiomyopathy 4Likely pathogenic
(May 22, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:47363687
GRCh38:
Chr11:47342136
MYBPC3Q549*Hypertrophic cardiomyopathy 4Pathogenic
(May 22, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:47373047
GRCh38:
Chr11:47351496
MYBPC3F12Snot provided, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
Uncertain significance
(Jan 18, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:47359001
GRCh38:
Chr11:47337450
MYBPC3A848Vnot provided, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
Uncertain significance
(Oct 13, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr11:47369474
GRCh38:
Chr11:47347923
MYBPC3Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
Benign/Likely benign
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:47368981
GRCh38:
Chr11:47347430
MYBPC3K301QHypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:47371664
GRCh38:
Chr11:47350113
MYBPC3Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
Likely pathogenic
(Jan 27, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr11:47356682
GRCh38:
Chr11:47335131
MYBPC3R939PHypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr11:47356710
GRCh38:
Chr11:47335159
MYBPC3L930VHypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy,
Cardiovascular phenotype
Uncertain significance
(Mar 30, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr11:47362553
GRCh38:
Chr11:47341002
MYBPC3Hypertrophic cardiomyopathy 4Likely pathogenic
(Apr 10, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr11:47372996
GRCh38:
Chr11:47351445
MYBPC3F29fsHypertrophic cardiomyopathy 4Likely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:47364144
GRCh38:
Chr11:47342593
MYBPC3E537*Hypertrophic cardiomyopathy 4Likely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:47370094
GRCh38:
Chr11:47348543
MYBPC3Cardiomyopathy, Hypertrophic cardiomyopathy 4Likely pathogenic
(Jan 3, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:47360232
GRCh38:
Chr11:47338681
MYBPC3Hypertrophic cardiomyopathy 4Likely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:47354761-47354762
GRCh38:
Chr11:47333210-47333211
MYBPC3A1105fsHypertrophic cardiomyopathy 4Pathogenic
(Jan 3, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:47365099
GRCh38:
Chr11:47343548
MYBPC3D389EHypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Apr 28, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr11:47356649
GRCh38:
Chr11:47335098
MYBPC3A950ELeft ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, not provided
Uncertain significance
(May 3, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr11:47360874
GRCh38:
Chr11:47339323
MYBPC3not provided, Hypertrophic cardiomyopathy 4Pathogenic/Likely pathogenic
(Dec 17, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:47363663
GRCh38:
Chr11:47342112
MYBPC3G557CHypertrophic cardiomyopathy 4Uncertain significance
(Oct 6, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr11:47364402-47364406
GRCh38:
Chr11:47342851-47342855
MYBPC3Hypertrophic cardiomyopathy 4Uncertain significance
(Nov 11, 2020)
criteria provided, single submitter
39.
GRCh37:
Chr11:47354515
GRCh38:
Chr11:47332964
MYBPC3T1114Anot provided, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Cardiomyopathy
Uncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr11:47354878
GRCh38:
Chr11:47333327
MYBPC3P1066RCardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Jun 9, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:47360215
GRCh38:
Chr11:47338664
MYBPC3E722*Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4Pathogenic
(Jan 3, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr11:47364384
GRCh38:
Chr11:47342833
MYBPC3K485RCardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Hypertrophic cardiomyopathy
Uncertain significance
(Jan 17, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr11:47360310
GRCh38:
Chr11:47338759
MYBPC3Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
Uncertain significance
(Sep 2, 2021)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr11:47364168
GRCh38:
Chr11:47342617
MYBPC3T529SLeft ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
Uncertain significance
(Sep 20, 2021)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr11:47354124
GRCh38:
Chr11:47332573
MYBPC3S1207fsCardiomyopathyLikely pathogenic
(Jan 21, 2020)
criteria provided, single submitter
46.
GRCh37:
Chr11:47353671
GRCh38:
Chr11:47332120
MYBPC3T1256fsHypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4Pathogenic
(Oct 14, 2021)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr11:47357428-47357454
GRCh38:
Chr11:47335877-47335903
MYBPC3Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10Likely pathogeniccriteria provided, single submitter
48.
GRCh37:
Chr11:47365138
GRCh38:
Chr11:47343587
MYBPC3S376fsHypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathyPathogenic/Likely pathogenic
(Nov 16, 2021)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr14:23882989
GRCh38:
Chr14:23413780
MYH7S1924fsHypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Primary dilated cardiomyopathy,
not provided
Conflicting interpretations of pathogenicity
(Apr 1, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr11:47369402
GRCh38:
Chr11:47347851
MYBPC3Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr11:47353652
GRCh38:
Chr11:47332101
MYBPC3A1262VHypertrophic cardiomyopathy 4Uncertain significance
(Apr 12, 2019)
criteria provided, single submitter
52.
GRCh37:
Chr11:47367838
GRCh38:
Chr11:47346287
MYBPC3A337VCardiomyopathy, Hypertrophic cardiomyopathy 4Uncertain significance
(Feb 18, 2021)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr11:47371349
GRCh38:
Chr11:47349798
MYBPC3Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Cardiomyopathy
Likely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr11:47371387
GRCh38:
Chr11:47349836
MYBPC3D198NCardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
Uncertain significance
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr11:47359327
GRCh38:
Chr11:47337776
MYBPC3A776VHypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not provided,
Hypertrophic cardiomyopathy, Cardiomyopathy
Uncertain significance
(Apr 12, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:47372087
GRCh38:
Chr11:47350536
MYBPC3Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Benign/Likely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:47364232
GRCh38:
Chr11:47342681
MYBPC3Cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
Likely benign
(Jul 19, 2021)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:47355552
GRCh38:
Chr11:47334001
MYBPC3R972QLeft ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiomyopathy,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, not specified
Uncertain significance
(Mar 27, 2023)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:47355502
GRCh38:
Chr11:47333951
MYBPC3E989KHypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4,
Cardiomyopathy
Uncertain significance
(Mar 9, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:47360181
GRCh38:
Chr11:47338630
MYBPC3R733LHypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Oct 6, 2021)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr11:47364705
GRCh38:
Chr11:47343154
MYBPC3Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiomyopathy,
not provided, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Jul 25, 2022)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr11:47372949
GRCh38:
Chr11:47351398
MYBPC3G45RCardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 22, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr11:47364175
GRCh38:
Chr11:47342624
MYBPC3Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy
Likely benign
(Aug 13, 2021)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr11:47355226
GRCh38:
Chr11:47333675
MYBPC3S1024RCardiomyopathy, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
Uncertain significance
(Feb 23, 2023)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr11:47359255
GRCh38:
Chr11:47337704
MYBPC3G800ECardiomyopathy, not provided, Left ventricular noncompaction 10,
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
Uncertain significance
(Apr 18, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr11:47353625
GRCh38:
Chr11:47332074
MYBPC3R1271QHypertrophic cardiomyopathy, Cardiovascular phenotype, Left ventricular noncompaction 10,
Hypertrophic cardiomyopathy 4, not specified, Cardiomyopathy
Uncertain significance
(Aug 29, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:47360106
GRCh38:
Chr11:47338555
MYBPC3G758DHypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 4
Conflicting interpretations of pathogenicity
(Sep 13, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr11:47364152
GRCh38:
Chr11:47342601
MYBPC3A534VCardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 10, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr11:47357457
GRCh38:
Chr11:47335906
MYBPC3G903DCardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
Uncertain significance
(Nov 15, 2021)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr11:47364463
GRCh38:
Chr11:47342912
MYBPC3P459SHypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Cardiomyopathy
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr11:47353677-47353678
GRCh38:
Chr11:47332126-47332127
MYBPC3R1254fsCardiomyopathy, Hypertrophic cardiomyopathy 4Likely pathogenic
(Jan 20, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:47369044
GRCh38:
Chr11:47347493
MYBPC3Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiomyopathy,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr11:47363694
GRCh38:
Chr11:47342143
MYBPC3Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(May 10, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr11:47353627
GRCh38:
Chr11:47332076
MYBPC3Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiomyopathy,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(May 2, 2022)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr11:47353444
GRCh38:
Chr11:47331893
MYBPC3Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr11:47374232
GRCh38:
Chr11:47352681
MYBPC3Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr11:47362764
GRCh38:
Chr11:47341213
MYBPC3P608ALeft ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
Uncertain significance
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:47354774
GRCh38:
Chr11:47333223
MYBPC3T1101ALeft ventricular noncompaction 10, Hypertrophic cardiomyopathy 4Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr11:47365114
GRCh38:
Chr11:47343563
MYBPC3Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Left ventricular noncompaction 10, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Jul 15, 2022)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr11:47361278
GRCh38:
Chr11:47339727
MYBPC3G664VHypertrophic cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
Uncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr11:47360235
GRCh38:
Chr11:47338684
MYBPC3Hypertrophic cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
Conflicting interpretations of pathogenicity
(Sep 1, 2022)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr11:47354129
GRCh38:
Chr11:47332578
MYBPC3Hypertrophic cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
Conflicting interpretations of pathogenicity
(Nov 14, 2021)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr11:47353082
GRCh38:
Chr11:47331531
MYBPC3Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr11:47353019
GRCh38:
Chr11:47331468
MYBPC3Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr11:47372799
GRCh38:
Chr11:47351248
MYBPC3I95LHypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Left ventricular noncompaction 10, not provided
Uncertain significance
(Aug 13, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr11:47360133
GRCh38:
Chr11:47338582
MYBPC3Y749CHypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Left ventricular noncompaction 10
Conflicting interpretations of pathogenicity
(Jan 5, 2022)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr11:47356597
GRCh38:
Chr11:47335046
MYBPC3Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Left ventricular noncompaction 10,
Cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 30, 2020)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr11:47369408
GRCh38:
Chr11:47347857
MYBPC3T274MHypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy,
Cardiomyopathy
Uncertain significance
(Mar 25, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr11:47354858
GRCh38:
Chr11:47333307
MYBPC3R1073WHypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy,
Cardiovascular phenotype, Hypertrophic cardiomyopathy
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr11:47362777
GRCh38:
Chr11:47341226
MYBPC3I603MHypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr11:47360094
GRCh38:
Chr11:47338543
MYBPC3V762DHypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathyPathogenic/Likely pathogenic
(Feb 23, 2023)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr11:47371460
GRCh38:
Chr11:47349909
MYBPC3F174fsnot providedPathogenic
(Feb 1, 2023)
criteria provided, single submitter
93.
GRCh37:
Chr11:47357483
GRCh38:
Chr11:47335932
MYBPC3E894Dnot specified, Cardiomyopathy, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
Uncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr11:47354403
GRCh38:
Chr11:47332852
MYBPC3A1151VCardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
Uncertain significance
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr11:47372831
GRCh38:
Chr11:47351280
MYBPC3G84DHypertrophic cardiomyopathy 4, Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr11:47364475
GRCh38:
Chr11:47342924
MYBPC3L455FHypertrophic cardiomyopathy 4, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jul 4, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr11:47359040
GRCh38:
Chr11:47337489
MYBPC3R835LHypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathyUncertain significance
(May 28, 2019)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr11:47371620
GRCh38:
Chr11:47350069
MYBPC3Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Hypertrophic cardiomyopathy
Likely benign
(Nov 22, 2021)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr11:47372932
GRCh38:
Chr11:47351381
MYBPC3not provided, Cardiovascular phenotype, Cardiomyopathy,
Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, not specified,
Hypertrophic cardiomyopathy
Likely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr11:47361954
GRCh38:
Chr11:47340403
MYBPC3Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10Likely pathogenic
(Apr 15, 2022)
criteria provided, single submitter
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