| - GRCh37:
- Chr12:111348623-111348979
- GRCh38:
- Chr12:110910819-110911175
| MYL2 | | Hypertrophic cardiomyopathy 10 | Pathogenic
(Dec 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111348883
- GRCh38:
- Chr12:110911079
| MYL2 | | Congenital myopathy with fiber type disproportion | Likely pathogenic
(May 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111348885
- GRCh38:
- Chr12:110911081
| MYL2 | D166V | Hypertrophic cardiomyopathy 10 | Likely pathogenic
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111348886
- GRCh38:
- Chr12:110911082
| MYL2 | D166Y | not provided | Likely pathogenic
(Jul 29, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111348887-111348891
- GRCh38:
- Chr12:110911083-110911087
| MYL2 | E164fs | Cardiomyopathy | Likely pathogenic
(Oct 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111348895-111348897
- GRCh38:
- Chr12:110911091-110911093
| MYL2 | G143del, G148del, G162del | Hypertrophic cardiomyopathy | Likely pathogenic
(Dec 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111348897
- GRCh38:
- Chr12:110911093
| MYL2 | G162E | Hypertrophic cardiomyopathy | Pathogenic
(Apr 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111348900
- GRCh38:
- Chr12:110911096
| MYL2 | H161R | Hypertrophic cardiomyopathy | Likely pathogenic
(Jan 23, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr12:111348909
- GRCh38:
- Chr12:110911105
| MYL2 | I158T | Congenital heart disease | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr12:111348980
- GRCh38:
- Chr12:110911176
| MYL2 | | Hypertrophic cardiomyopathy 10 | Pathogenic
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111350926
- GRCh38:
- Chr12:110913122
| MYL2 | Q126* | Hypertrophic cardiomyopathy 10, MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY | Likely pathogenic
(Jul 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111351117
- GRCh38:
- Chr12:110913313
| MYL2 | E96K | not provided | Pathogenic/Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr12:111351120
- GRCh38:
- Chr12:110913316
| MYL2 | P95A | Hypertrophic cardiomyopathy 10 | Pathogenic
(May 1, 1996) | no assertion criteria provided |
| - GRCh37:
- Chr12:111352025
- GRCh38:
- Chr12:110914221
| MYL2 | T80N | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10 | Pathogenic/Likely pathogenic
(Mar 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111352071
- GRCh38:
- Chr12:110914267
| MYL2 | E65* | Cardiomyopathy | Likely pathogenic
(Oct 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111352091
- GRCh38:
- Chr12:110914287
| MYL2 | R58L | not provided, Hypertrophic cardiomyopathy 10 | Likely pathogenic
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111352091
- GRCh38:
- Chr12:110914287
| MYL2 | R58Q | Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10 | Pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111353525
- GRCh38:
- Chr12:110915721
| MYL2 | A55P | Hypertrophic cardiomyopathy 10 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111353547
- GRCh38:
- Chr12:110915743
| MYL2 | N47fs | Primary familial hypertrophic cardiomyopathy | Likely pathogenic
(Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111353575
- GRCh38:
- Chr12:110915771
| MYL2 | Q38R | not provided | Likely pathogenic
(Aug 28, 2014) | criteria provided, single submitter |