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Links from MedGen

Items: 33

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr4:120079255
GRCh38:
Chr4:119158100
MYOZ2N110fsnot provided, Hypertrophic cardiomyopathy 16Uncertain significance
(Sep 22, 2021)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr4:120057681
GRCh38:
Chr4:119136526
MYOZ2M1LHypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathyUncertain significance
(Mar 23, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr4:120107311
GRCh38:
Chr4:119186156
MYOZ2E251KInborn genetic diseases, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy
Uncertain significance
(Mar 6, 2023)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr4:120057691
GRCh38:
Chr4:119136536
MYOZ2H4LCardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 16
Uncertain significance
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr4:120057699
GRCh38:
Chr4:119136544
MYOZ2M7VCardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 16
Uncertain significance
(Sep 10, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr4:120003195-120107431
MYOZ2Hypertrophic cardiomyopathy 16Uncertain significance
(Apr 12, 2018)		criteria provided, single submitter
7.
GRCh37:
Chr4:120085361
GRCh38:
Chr4:119164206
MYOZ2Hypertrophic cardiomyopathy 16Likely benign
(Oct 4, 2016)		criteria provided, single submitter
8.
GRCh37:
Chr4:120107305
GRCh38:
Chr4:119186150
MYOZ2T249Anot provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 16		Uncertain significance
(Dec 9, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr4:120079273
GRCh38:
Chr4:119158118
MYOZ2R115*Cardiovascular phenotype, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy
Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr4:120108609
GRCh38:
Chr4:119187454
MYOZ2Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathyUncertain significance
(Aug 2, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr4:120108608-120108609
GRCh38:
Chr4:119187453-119187454
MYOZ2Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathyUncertain significance
(Aug 24, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr4:120107272
GRCh38:
Chr4:119186117
MYOZ2G238RHypertrophic cardiomyopathy 16Uncertain significance
(Oct 19, 2016)		criteria provided, single submitter
13.
GRCh37:
Chr4:120057146-120057147
GRCh38:
Chr4:119135991-119135992
MYOZ2Hypertrophic cardiomyopathy 16, not provided, Hypertrophic cardiomyopathy
Benign/Likely benign
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr4:120057719
GRCh38:
Chr4:119136564
MYOZ2Cardiovascular phenotype, Hypertrophic cardiomyopathy, not specified,
Hypertrophic cardiomyopathy 16		Benign/Likely benign
(Jun 22, 2020)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr4:120085550
GRCh38:
Chr4:119164395
MYOZ2Hypertrophic cardiomyopathy 16Uncertain significance
(Mar 18, 2016)		criteria provided, single submitter
16.
GRCh37:
Chr4:120072131
GRCh38:
Chr4:119150976
MYOZ2R61CHypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
not provided		Uncertain significance
(Jun 29, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr4:120085468
GRCh38:
Chr4:119164313
MYOZ2P160LCardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 16,
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr4:120107234
GRCh38:
Chr4:119186079
MYOZ2P225LHypertrophic cardiomyopathy, Cardiovascular phenotype, not provided,
Hypertrophic cardiomyopathy 16		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr4:120107226
GRCh38:
Chr4:119186071
MYOZ2F222LHypertrophic cardiomyopathy 16, not providedUncertain significance
(Sep 28, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr4:120079232
GRCh38:
Chr4:119158077
MYOZ2S101*Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
not provided, Hypertrophic cardiomyopathy 16		Uncertain significance
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr4:120057776
GRCh38:
Chr4:119136621
MYOZ2not specified, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy
Benign/Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr4:120057775
GRCh38:
Chr4:119136620
MYOZ2not specified, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy,
not provided		Benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr4:120107310
GRCh38:
Chr4:119186155
MYOZ2Cardiovascular phenotype, not specified, Cardiomyopathy,
Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr4:120085477
GRCh38:
Chr4:119164322
MYOZ2L163SCardiovascular phenotype, not provided, not specified,
Cardiomyopathy, Hypertrophic cardiomyopathy 16, Restrictive cardiomyopathy,
Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Jul 26, 2022)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr4:120085436
GRCh38:
Chr4:119164281
MYOZ2Q149Hnot specified, not provided, Hypertrophic cardiomyopathy 16,
Hypertrophic cardiomyopathy		Uncertain significance
(Aug 12, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr4:120057709
GRCh38:
Chr4:119136554
MYOZ2Q10RCardiovascular phenotype, not specified, Cardiomyopathy,
Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy		Uncertain significance
(Mar 14, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr4:120057709
GRCh38:
Chr4:119136554
MYOZ2Q10PCardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy,
not specified, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy		Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr4:120057671-120057672
GRCh38:
Chr4:119136516-119136517
MYOZ2Cardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 16		Benign
(Feb 13, 2018)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr4:120072187
GRCh38:
Chr4:119151032
MYOZ2Cardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy
Benign
(Jan 1, 2023)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr4:120079159
GRCh38:
Chr4:119158004
MYOZ2not specified, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy
Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr4:120085448
GRCh38:
Chr4:119164293
MYOZ2Hypertrophic cardiomyopathy 16, not specified, Hypertrophic cardiomyopathy,
Cardiovascular phenotype		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr4:120107298
GRCh38:
Chr4:119186143
MYOZ2I246Mnot specified, not provided, Hypertrophic cardiomyopathy
Benign/Likely benign
(May 2, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr4:120072092
GRCh38:
Chr4:119150937
MYOZ2S48PHypertrophic cardiomyopathy 16Likely pathogenic
(Aug 23, 2021)		criteria provided, single submitter
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