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Links from MedGen

Items: 20

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:111356951
GRCh38:
Chr12:110919147
MYL2, LOC114827850V17AHypertrophic cardiomyopathy 10, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Hypertrophic cardiomyopathy 10
Uncertain significance
(Oct 15, 2021)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr12:111350926
GRCh38:
Chr12:110913122
MYL2Q126*Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyLikely pathogenic
(Jul 12, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr12:111348950
GRCh38:
Chr12:110911146
MYL2D145fsHypertrophic cardiomyopathy 10Uncertain significance
(Aug 30, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr12:111352058
GRCh38:
Chr12:110914254
MYL2M69THypertrophic cardiomyopathy 10, Cardiomyopathy, Hypertrophic cardiomyopathy 10,
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy		Uncertain significance
(Sep 25, 2021)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr12:111348797
GRCh38:
Chr12:110910993
MYL2Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Hypertrophic cardiomyopathy 10
Uncertain significance
(Jul 23, 2021)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr12:111353546
GRCh38:
Chr12:110915742
MYL2D48NHypertrophic cardiomyopathy 10, Cardiomyopathy, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy,
Hypertrophic cardiomyopathy 10		Uncertain significance
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr12:111348950-111348951
GRCh38:
Chr12:110911146-110911147
MYL2P144fsCardiovascular phenotype, Cardiomyopathy, Congenital myopathy with fiber type disproportion
Conflicting interpretations of pathogenicity
(Feb 3, 2023)		criteria provided, conflicting interpretations
8.
GRCh37:
Chr12:111352061
GRCh38:
Chr12:110914257
MYL2E68GInborn genetic diseases, Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10,
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr12:111350927
GRCh38:
Chr12:110913123
MYL2Cardiomyopathy, Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10,
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy		Likely benign
(Aug 2, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr12:111350926
GRCh38:
Chr12:110913122
MYL2Q126Enot provided, Hypertrophic cardiomyopathy 10, Cardiomyopathy,
Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy		Uncertain significance
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr12:111348951
GRCh38:
Chr12:110911147
MYL2P144fsCardiovascular phenotype, Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy
Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr12:111350944
GRCh38:
Chr12:110913140
MYL2R120GHypertrophic cardiomyopathy 10, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Cardiomyopathy,
Hypertrophic cardiomyopathy 10, not provided		Uncertain significance
(Mar 25, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:111353591
GRCh38:
Chr12:110915787
MYL2F33Lnot provided, Cardiomyopathy, Hypertrophic cardiomyopathy 10,
Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr12:111356952
GRCh38:
Chr12:110919148
LOC114827850, MYL2V17MCardiovascular phenotype, Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10,
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, not provided, Cardiomyopathy
Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr12:111348954
GRCh38:
Chr12:110911150
MYL2P143LCardiovascular phenotype, not specified, Hypertrophic cardiomyopathy 10,
Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy		Uncertain significance
(May 27, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr12:111350943
GRCh38:
Chr12:110913139
MYL2R120QCardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 5, 2022)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr12:111351030
GRCh38:
Chr12:110913226
MYL2Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, not specified, not provided,
Hypertrophic cardiomyopathy 10, Congestive heart failure		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr12:111348980
GRCh38:
Chr12:110911176
MYL2Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Cardiovascular phenotype, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 10		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr12:111353547
GRCh38:
Chr12:110915743
MYL2N47KCardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
Uncertain significance
(Jan 30, 2023)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr12:111356949
GRCh38:
Chr12:110919145
LOC114827850, MYL2F18LCardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 10,
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Hypertrophic cardiomyopathy 10		Pathogenic/Likely pathogenic
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
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