U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 303

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr15:73617534
GRCh38:
Chr15:73325193
HCN4E580DLeft ventricular noncompaction cardiomyopathyPathogenicno assertion criteria provided
2.
GRCh37:
Chr3:12645663
GRCh38:
Chr3:12604164
RAF1T155I, T188I, T236I, T269ILeft ventricular noncompaction cardiomyopathyLikely pathogeniccriteria provided, single submitter
3.
GRCh37:
Chr1:3328388
GRCh38:
Chr1:3411824
PRDM16Q543*Left ventricular noncompaction cardiomyopathyPathogeniccriteria provided, single submitter
4.
GRCh37:
Chr14:23899074
GRCh38:
Chr14:23429865
MYH7Y350NLeft ventricular noncompaction cardiomyopathyLikely pathogeniccriteria provided, single submitter
5.
GRCh37:
Chr15:73622050
GRCh38:
Chr15:73329709
HCN4A485VCardiovascular phenotype, Left ventricular noncompaction cardiomyopathyLikely pathogenic
(Oct 11, 2021)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr15:73622059
GRCh38:
Chr15:73329718
HCN4G482ELeft ventricular noncompaction cardiomyopathyLikely pathogeniccriteria provided, single submitter
7.
GRCh37:
Chr12:33021961-33021962
GRCh38:
Chr12:32869027-32869028
PKP2V357fsLeft ventricular noncompaction cardiomyopathyLikely pathogeniccriteria provided, single submitter
8.
GRCh37:
Chr1:78408362-78408363
GRCh38:
Chr1:77942677-77942678
NEXND563fs, D627fsnot provided, Left ventricular noncompaction cardiomyopathyConflicting interpretations of pathogenicity
(Apr 29, 2019)		criteria provided, conflicting interpretations
9.
GRCh37:
Chr3:52485865
GRCh38:
Chr3:52451849
TNNC1T71MCardiovascular phenotype, Left ventricular noncompaction cardiomyopathyUncertain significance
(Jun 26, 2019)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr15:85400569
GRCh38:
Chr15:84857338
ALPK3M867KCardiovascular phenotypeUncertain significance
(Sep 17, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr15:73622066
GRCh38:
Chr15:73329725
HCN4G480SBrugada syndrome 8, Cardiovascular phenotypePathogenic/Likely pathogenic
(Jan 11, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr12:32949131-32949139
GRCh38:
Chr12:32796197-32796205
PKP2Arrhythmogenic right ventricular dysplasia 9, Left ventricular noncompaction cardiomyopathyConflicting interpretations of pathogenicity
(Aug 27, 2021)		criteria provided, conflicting interpretations
13.
GRCh37:
Chr12:114841598-114841599
GRCh38:
Chr12:114403793-114403794
TBX5S36fsLeft ventricular noncompaction cardiomyopathy, Holt-Oram syndromePathogenic
(Feb 9, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr15:63349200
GRCh38:
Chr15:63057001
TPM1A86V, A128V, A50VLeft ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathyConflicting interpretations of pathogenicity
(Aug 31, 2021)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr10:88451741
GRCh38:
Chr10:86691984
LDB3A260T, A328T, A213TMyofibrillar myopathy 4, Left ventricular noncompaction cardiomyopathyUncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr14:23898288
GRCh38:
Chr14:23429079
MYH7A428Dnot provided, Left ventricular noncompaction cardiomyopathyPathogenic/Likely pathogenic
(Sep 1, 2016)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
ChrX:153641889
GRCh38:
ChrX:154413552
TAFAZZINV119M, V137MLeft ventricular noncompaction cardiomyopathyLikely pathogeniccriteria provided, single submitter
18.
GRCh37:
Chr11:119145599
GRCh38:
Chr11:119274889
CBLM269VCBL-related disorder, RASopathy, Left ventricular noncompaction cardiomyopathy
Uncertain significance
(May 3, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
ChrX:153640209
GRCh38:
ChrX:154411872
DNASE1L1, LOC130068869, TAFAZZINP10Rnot provided, Left ventricular noncompaction cardiomyopathy, 3-Methylglutaconic aciduria type 2
Uncertain significance
(Mar 4, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr18:29121280
GRCh38:
Chr18:31541317
DSG2Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10,
Left ventricular noncompaction cardiomyopathy		Conflicting interpretations of pathogenicity
(Feb 19, 2022)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr1:3322136
GRCh38:
Chr1:3405572
PRDM16D370ELeft ventricular noncompaction cardiomyopathyUncertain significance
(Jul 3, 2019)		criteria provided, single submitter
22.
GRCh37:
Chr14:23901875
GRCh38:
Chr14:23432666
MYH7D159NLeft ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr6:133802598
GRCh38:
Chr6:133481460
EYA4Cardiovascular phenotype, Left ventricular noncompaction cardiomyopathyUncertain significance
(May 23, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr14:23883023
GRCh38:
Chr14:23413814
MYH7I1912Nnot providedUncertain significance
(Jun 1, 2016)		criteria provided, single submitter
25.
GRCh37:
Chr1:236891015
GRCh38:
Chr1:236727715
ACTN2R192*Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy,
not provided		Conflicting interpretations of pathogenicity
(Oct 29, 2022)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr2:179439980
GRCh38:
Chr2:178575253
TTN, TTN-AS1Q21986*, Q23627*, Q14687*, Q21059*, Q14562*, Q14754*Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Left ventricular noncompaction cardiomyopathy
Likely pathogenic
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr20:30408301
GRCh38:
Chr20:31820498
MYLK2G142VLeft ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 10, 2022)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr3:14183269
GRCh38:
Chr3:14141769
TMEM43R393WCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy,
Left ventricular noncompaction cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Emery-Dreifuss muscular dystrophy 7, autosomal dominant,
Auditory neuropathy, autosomal dominant 3		Uncertain significance
(Aug 1, 2023)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:179393094
GRCh38:
Chr2:178528367
TTN, TTN-AS1R34121*, R26697*, R33194*, R26822*, R26889*, R35762*Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not provided		Likely pathogenic
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr11:47358972
GRCh38:
Chr11:47337421
MYBPC3S858RLeft ventricular noncompaction cardiomyopathyLikely pathogeniccriteria provided, single submitter
31.
GRCh37:
Chr14:23901068
GRCh38:
Chr14:23431859
MYH7G181RMyosin storage myopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy,
Left ventricular noncompaction cardiomyopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy,
Myopathy, myosin storage, autosomal recessive, Cardiomyopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S		Conflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr2:179456783
GRCh38:
Chr2:178592056
LOC126806424, TTN, TTN-AS1R19950*, R11077*, R18309*, R10885*, R11010*, R17382*Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Cardiovascular phenotype
Likely pathogenic
(Aug 9, 2023)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr18:32345918
GRCh38:
Chr18:34765954
DTNAPrimary dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Ventricular tachycardia,
Left ventricular noncompaction 1, not specified		Conflicting interpretations of pathogenicity
(Jun 12, 2023)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr15:63358091
GRCh38:
Chr15:63065892
TPM1Cardiovascular phenotype, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Sep 30, 2022)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr2:179641976
GRCh38:
Chr2:178777249
LOC101927055, TTNR1572*, R1526*Cardiovascular phenotype, Left ventricular noncompaction cardiomyopathy, not specified
Conflicting interpretations of pathogenicity
(May 23, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr14:23866754
GRCh38:
Chr14:23397545
MYH6R654WHypertrophic cardiomyopathy 14, Cardiovascular phenotype, Aborted sudden cardiac death,
Left ventricular noncompaction cardiomyopathy, not provided		Uncertain significance
(Mar 27, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr14:23894147
GRCh38:
Chr14:23424938
LOC126861898, MYH7K837MLeft ventricular noncompaction cardiomyopathy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Aug 31, 2021)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr2:179397982
GRCh38:
Chr2:178533255
TTN, TTN-AS1E25514fs, E25581fs, E32813fs, E25389fs, E31886fs, E34454fsCardiovascular phenotype, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy 9,
Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided, Primary dilated cardiomyopathy,
Limb-girdle muscular dystrophy, Decreased patellar reflexProximal lower limb amyotrophy,
Waddling gait, Muscular dystrophy, ...see more		Conflicting interpretations of pathogenicity
(Jun 1, 2023)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr14:23877490
GRCh38:
Chr14:23408281
LOC114827851, MYH7Dilated Cardiomyopathy, Dominant, Scapuloperoneal myopathy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Myosin storage myopathy
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
40.
GRCh37:
ChrX:153649903
GRCh38:
ChrX:154421564
TAFAZZIN3-Methylglutaconic aciduria type 2, Endocardial fibroelastosis, Primary dilated cardiomyopathy,
Left ventricular noncompaction cardiomyopathy		Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
41.
GRCh37:
ChrX:153649813
GRCh38:
ChrX:154421474
TAFAZZINPrimary dilated cardiomyopathy, Endocardial fibroelastosis, 3-Methylglutaconic aciduria type 2,
Left ventricular noncompaction cardiomyopathy		Benign
(Jan 13, 2018)		criteria provided, single submitter
42.
GRCh37:
ChrX:153649739
GRCh38:
ChrX:154421400
TAFAZZIN3-Methylglutaconic aciduria type 2, Endocardial fibroelastosis, Primary dilated cardiomyopathy,
Left ventricular noncompaction cardiomyopathy		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
ChrX:153649730
GRCh38:
ChrX:154421391
TAFAZZIN3-Methylglutaconic aciduria type 2, Primary dilated cardiomyopathy, Endocardial fibroelastosis,
Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
44.
GRCh37:
ChrX:153648579
GRCh38:
ChrX:154420240
TAFAZZINCardiovascular phenotype, Cardiomyopathy, Left ventricular noncompaction cardiomyopathy,
not specified, Endocardial fibroelastosis, Primary dilated cardiomyopathy,
not provided, 3-Methylglutaconic aciduria type 2		Benign/Likely benign
(Oct 16, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
ChrX:153647925
GRCh38:
ChrX:154419586
TAFAZZINnot provided, Endocardial fibroelastosis, 3-Methylglutaconic aciduria type 2,
Primary dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Conflicting interpretations of pathogenicity
(Mar 18, 2022)		criteria provided, conflicting interpretations
46.
GRCh37:
ChrX:153640093
GRCh38:
ChrX:154411756
DNASE1L1, LOC130068869, TAFAZZINLeft ventricular noncompaction cardiomyopathy, not provided, Endocardial fibroelastosis,
3-Methylglutaconic aciduria type 2, Primary dilated cardiomyopathy		Benign/Likely benign
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
ChrX:153640062
GRCh38:
ChrX:154411725
DNASE1L1, LOC130068869, TAFAZZIN3-Methylglutaconic aciduria type 2, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy 3B,
Endocardial fibroelastosis		Benign
(Jun 14, 2016)		criteria provided, single submitter
48.
GRCh37:
Chr18:32448404-32448405
GRCh38:
Chr18:34868440-34868441
DTNALeft ventricular noncompaction cardiomyopathyUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
49.
GRCh37:
Chr18:32448119
GRCh38:
Chr18:34868155
DTNALeft ventricular noncompaction cardiomyopathyBenign
(Jun 14, 2016)		criteria provided, single submitter
50.
GRCh37:
Chr18:32447955-32447957
GRCh38:
Chr18:34867991-34867993
DTNALeft ventricular noncompaction cardiomyopathyUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
51.
GRCh37:
Chr18:32446839-32446840
GRCh38:
Chr18:34866875-34866876
DTNALeft ventricular noncompaction cardiomyopathy, Left ventricular noncompaction 1Uncertain significance
(Jan 29, 2020)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr18:32335994
GRCh38:
Chr18:34756030
DTNALeft ventricular noncompaction cardiomyopathy, Left ventricular noncompaction 1Conflicting interpretations of pathogenicity
(Mar 7, 2019)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr15:35087878
GRCh38:
Chr15:34795677
ACTC1, GJD2-DTLeft ventricular noncompaction cardiomyopathy, Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Atrial septal defect		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
54.
GRCh37:
Chr15:35087859
GRCh38:
Chr15:34795658
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Atrial septal defect, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
55.
GRCh37:
Chr15:35087793
GRCh38:
Chr15:34795592
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
56.
GRCh37:
Chr15:35087789
GRCh38:
Chr15:34795588
ACTC1, GJD2-DTAtrial septal defect, Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
57.
GRCh37:
Chr15:35087785
GRCh38:
Chr15:34795584
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
58.
GRCh37:
Chr15:35087739
GRCh38:
Chr15:34795538
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy,
Atrial septal defect, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
59.
GRCh37:
Chr15:35087733-35087734
GRCh38:
Chr15:34795532-34795533
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy,
not provided, Atrial septal defect, Left ventricular noncompaction cardiomyopathy
Conflicting interpretations of pathogenicity
(Jun 14, 2016)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr15:35087720
GRCh38:
Chr15:34795519
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, not specified, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Atrial septal defect, Left ventricular noncompaction cardiomyopathy
Conflicting interpretations of pathogenicity
(Feb 6, 2017)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr15:35083508-35083509
GRCh38:
Chr15:34791307-34791308
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, not specified, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, not provided, Atrial septal defect,
Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R,
Left ventricular noncompaction cardiomyopathy		Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr15:35083509-35083520
GRCh38:
Chr15:34791308-34791319
ACTC1, GJD2-DTHypertrophic cardiomyopathy, Familial restrictive cardiomyopathy, not specified,
Atrial septal defect, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11,
Atrial septal defect 5, Dilated Cardiomyopathy, Dominant, Primary dilated cardiomyopathy,
Left ventricular noncompaction cardiomyopathy		Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr15:35083509-35083512
GRCh38:
Chr15:34791308-34791311
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, not specified, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1R, not provided, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy		Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr15:35083509-35083510
GRCh38:
Chr15:34791308-34791309
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, not specified, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1R, Atrial septal defect, Left ventricular noncompaction cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr15:35083508-35083509
GRCh38:
Chr15:34791307-34791308
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, not specified, Familial restrictive cardiomyopathy,
not provided, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1R, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr15:35083508-35083509
GRCh38:
Chr15:34791307-34791308
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, not specified, Familial restrictive cardiomyopathy,
Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R,
not provided, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr15:35083507-35083508
GRCh38:
Chr15:34791306-34791307
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1R, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Jul 4, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr15:35083327
GRCh38:
Chr15:34791126
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
69.
GRCh37:
Chr15:35082389
GRCh38:
Chr15:34790188
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
70.
GRCh37:
Chr15:35082366
GRCh38:
Chr15:34790165
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Atrial septal defect, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
71.
GRCh37:
Chr15:35082329
GRCh38:
Chr15:34790128
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
72.
GRCh37:
Chr15:35082306
GRCh38:
Chr15:34790105
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Atrial septal defect, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
73.
GRCh37:
Chr15:35082191
GRCh38:
Chr15:34789990
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
74.
GRCh37:
Chr15:35082052
GRCh38:
Chr15:34789851
GJD2-DT, ACTC1Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy,
Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
75.
GRCh37:
Chr15:35081970
GRCh38:
Chr15:34789769
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
76.
GRCh37:
Chr15:35081967
GRCh38:
Chr15:34789766
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
77.
GRCh37:
Chr15:35081939
GRCh38:
Chr15:34789738
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
78.
GRCh37:
Chr15:35081905
GRCh38:
Chr15:34789704
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Atrial septal defect, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
79.
GRCh37:
Chr15:35081874
GRCh38:
Chr15:34789673
ACTC1, GJD2-DTAtrial septal defect, Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
80.
GRCh37:
Chr15:35081838
GRCh38:
Chr15:34789637
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
81.
GRCh37:
Chr15:35081678
GRCh38:
Chr15:34789477
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
82.
GRCh37:
Chr15:35081630
GRCh38:
Chr15:34789429
ACTC1, GJD2-DTAtrial septal defect, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy,
Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
83.
GRCh37:
Chr15:35081551
GRCh38:
Chr15:34789350
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
84.
GRCh37:
Chr15:35081543
GRCh38:
Chr15:34789342
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
85.
GRCh37:
Chr15:35081523
GRCh38:
Chr15:34789322
GJD2-DT, ACTC1Atrial septal defect, Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
86.
GRCh37:
Chr15:35081498
GRCh38:
Chr15:34789297
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
87.
GRCh37:
Chr15:35081295
GRCh38:
Chr15:34789094
ACTC1, GJD2-DTAtrial septal defect, Left ventricular noncompaction cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
88.
GRCh37:
Chr15:35081131
GRCh38:
Chr15:34788930
ACTC1, GJD2-DTAtrial septal defect, Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
89.
GRCh37:
Chr15:35081111
GRCh38:
Chr15:34788910
GJD2-DT, ACTC1Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy,
Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
90.
GRCh37:
Chr15:35080860
GRCh38:
Chr15:34788659
ACTC1, GJD2-DTAtrial septal defect, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
91.
GRCh37:
Chr15:35080832
GRCh38:
Chr15:34788631
ACTC1, GJD2-DTLeft ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Familial restrictive cardiomyopathy, Atrial septal defect		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
92.
GRCh37:
Chr15:35080816
GRCh38:
Chr15:34788615
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Atrial septal defect, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
93.
GRCh37:
Chr15:35080445
GRCh38:
Chr15:34788244
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Atrial septal defect, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
94.
GRCh37:
Chr14:23903456
GRCh38:
Chr14:23434247
MYH7Dilated Cardiomyopathy, Dominant, MYH7-related skeletal myopathy, Myosin storage myopathy,
not provided, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1,
Left ventricular noncompaction cardiomyopathy		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr14:23903441
GRCh38:
Chr14:23434232
MYH7Myosin storage myopathy, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy,
MYH7-related skeletal myopathy, Scapuloperoneal myopathy, Left ventricular noncompaction cardiomyopathy
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
96.
GRCh37:
Chr14:23903433
GRCh38:
Chr14:23434224
MYH7Dilated Cardiomyopathy, Dominant, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy,
Myosin storage myopathy, Scapuloperoneal myopathy, Left ventricular noncompaction cardiomyopathy
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
97.
GRCh37:
Chr14:23903430
GRCh38:
Chr14:23434221
MYH7Myosin storage myopathy, Dilated Cardiomyopathy, Dominant, MYH7-related skeletal myopathy,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy 1, not provided
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr14:23901901
GRCh38:
Chr14:23432692
MYH7A150GDilated Cardiomyopathy, Dominant, Myosin storage myopathy, Hypertrophic cardiomyopathy,
MYH7-related skeletal myopathy, Scapuloperoneal myopathy, Left ventricular noncompaction cardiomyopathy
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
99.
GRCh37:
Chr14:23899135
GRCh38:
Chr14:23429926
MYH7MYH7-related skeletal myopathy, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy,
Myosin storage myopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S
Uncertain significance
(Oct 29, 2021)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr14:23898977
GRCh38:
Chr14:23429768
MYH7Myosin storage myopathy, Hypertrophic cardiomyopathy, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, Left ventricular noncompaction cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 11, 2022)		criteria provided, conflicting interpretations
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination