| - GRCh37:
- Chr4:120079255
- GRCh38:
- Chr4:119158100
| MYOZ2 | N110fs | not provided, Hypertrophic cardiomyopathy 16 | Uncertain significance (Sep 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120057681
- GRCh38:
- Chr4:119136526
| MYOZ2 | M1L | Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy | Uncertain significance (Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120107311
- GRCh38:
- Chr4:119186156
| MYOZ2 | E251K | Inborn genetic diseases, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy
| Uncertain significance (Mar 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120057691
- GRCh38:
- Chr4:119136536
| MYOZ2 | H4L | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 16
| Uncertain significance (Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120057699
- GRCh38:
- Chr4:119136544
| MYOZ2 | M7V | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 16
| Uncertain significance (Sep 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120003195-120107431
| MYOZ2 | | Hypertrophic cardiomyopathy 16 | Uncertain significance (Apr 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:120085361
- GRCh38:
- Chr4:119164206
| MYOZ2 | | Hypertrophic cardiomyopathy 16 | Likely benign (Oct 4, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:120107305
- GRCh38:
- Chr4:119186150
| MYOZ2 | T249A | not provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 16 | Uncertain significance (Dec 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120079273
- GRCh38:
- Chr4:119158118
| MYOZ2 | R115* | Cardiovascular phenotype, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy
| Uncertain significance (Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120108609
- GRCh38:
- Chr4:119187454
| MYOZ2 | | Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy | Uncertain significance (Aug 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120108608-120108609
- GRCh38:
- Chr4:119187453-119187454
| MYOZ2 | | Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy | Uncertain significance (Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120107272
- GRCh38:
- Chr4:119186117
| MYOZ2 | G238R | Hypertrophic cardiomyopathy 16 | Uncertain significance (Oct 19, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:120057146-120057147
- GRCh38:
- Chr4:119135991-119135992
| MYOZ2 | | Hypertrophic cardiomyopathy 16, not provided, Hypertrophic cardiomyopathy
| Benign/Likely benign (Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120057719
- GRCh38:
- Chr4:119136564
| MYOZ2 | | Cardiovascular phenotype, Hypertrophic cardiomyopathy, not specified, Hypertrophic cardiomyopathy 16 | Benign/Likely benign (Jun 22, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120085550
- GRCh38:
- Chr4:119164395
| MYOZ2 | | Hypertrophic cardiomyopathy 16 | Uncertain significance (Mar 18, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:120072131
- GRCh38:
- Chr4:119150976
| MYOZ2 | R61C | Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy, Cardiovascular phenotype, not provided | Uncertain significance (Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120085468
- GRCh38:
- Chr4:119164313
| MYOZ2 | P160L | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 16, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120107234
- GRCh38:
- Chr4:119186079
| MYOZ2 | P225L | Hypertrophic cardiomyopathy, Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 16 | Uncertain significance (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120107226
- GRCh38:
- Chr4:119186071
| MYOZ2 | F222L | Hypertrophic cardiomyopathy 16, not provided | Uncertain significance (Sep 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120079232
- GRCh38:
- Chr4:119158077
| MYOZ2 | S101* | Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 16 | Uncertain significance (Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120057776
- GRCh38:
- Chr4:119136621
| MYOZ2 | | not specified, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy
| Benign/Likely benign (Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120057775
- GRCh38:
- Chr4:119136620
| MYOZ2 | | not specified, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy, not provided | Benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120107310
- GRCh38:
- Chr4:119186155
| MYOZ2 | | Cardiovascular phenotype, not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120085477
- GRCh38:
- Chr4:119164322
| MYOZ2 | L163S | Cardiovascular phenotype, not provided, not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 16, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity (Jul 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:120085436
- GRCh38:
- Chr4:119164281
| MYOZ2 | Q149H | not specified, not provided, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy | Uncertain significance (Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120057709
- GRCh38:
- Chr4:119136554
| MYOZ2 | Q10R | Cardiovascular phenotype, not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy | Uncertain significance (Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120057709
- GRCh38:
- Chr4:119136554
| MYOZ2 | Q10P | Cardiovascular 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 |
| - GRCh37:
- Chr4:120057671-120057672
- GRCh38:
- Chr4:119136516-119136517
| MYOZ2 | | Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 16 | Benign (Feb 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120072187
- GRCh38:
- Chr4:119151032
| MYOZ2 | | Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy
| Benign (Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120079159
- GRCh38:
- Chr4:119158004
| MYOZ2 | | not specified, Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy
| Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120085448
- GRCh38:
- Chr4:119164293
| MYOZ2 | | Hypertrophic cardiomyopathy 16, not specified, Hypertrophic cardiomyopathy, Cardiovascular phenotype | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120107298
- GRCh38:
- Chr4:119186143
| MYOZ2 | I246M | not specified, not provided, Hypertrophic cardiomyopathy
| Benign/Likely benign (May 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:120072092
- GRCh38:
- Chr4:119150937
| MYOZ2 | S48P | Hypertrophic cardiomyopathy 16 | Likely pathogenic (Aug 23, 2021) | criteria provided, single submitter |