| - GRCh37:
- Chr17:37822327
- GRCh38:
- Chr17:39666074
| TCAP | S157T | Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G, Cardiovascular phenotype
| Uncertain significance
(Jun 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37821723
- GRCh38:
- Chr17:39665470
| TCAP | | Autosomal recessive limb-girdle muscular dystrophy type 2G | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:37821649
- GRCh38:
- Chr17:39665396
| TCAP | E13K | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
Autosomal recessive limb-girdle muscular dystrophy type 2G | Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822152-37822153
- GRCh38:
- Chr17:39665899-39665900
| TCAP | M99V | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Hypertrophic cardiomyopathy 25,
Primary familial hypertrophic cardiomyopathy | Uncertain significance
(Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822336
- GRCh38:
- Chr17:39666083
| TCAP | M160V | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 25 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822052
- GRCh38:
- Chr17:39665799
| TCAP | P65L | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 25, Cardiovascular phenotype | Uncertain significance
(Jun 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822315
- GRCh38:
- Chr17:39666062
| TCAP | R153S | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 25 | Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37821666
- GRCh38:
- Chr17:39665413
| TCAP | | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2G,
Hypertrophic cardiomyopathy 25, not provided, Cardiovascular phenotype
| Likely benign
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822780
- GRCh38:
- Chr17:39666527
| TCAP | | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:37822757
- GRCh38:
- Chr17:39666504
| TCAP | | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25
| Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:37822561
- GRCh38:
- Chr17:39666308
| TCAP | | Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:37822490
- GRCh38:
- Chr17:39666237
| TCAP | | Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G | Uncertain significance
(Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:37822416
- GRCh38:
- Chr17:39666163
| TCAP | | not provided, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G
| Conflicting interpretations of pathogenicity
(Jun 16, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:37821687
- GRCh38:
- Chr17:39665434
| TCAP | W25* | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G
| Pathogenic/Likely pathogenic
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822199
- GRCh38:
- Chr17:39665946
| TCAP | Q114R | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not specified,
not provided | Uncertain significance
(Apr 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37821662-37821663
- GRCh38:
- Chr17:39665409-39665410
| TCAP | R17P | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25 | Uncertain significance
(Apr 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37821644-37821645
- GRCh38:
- Chr17:39665391-39665392
| TCAP | E12fs | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Abnormality of the musculature,
Autosomal recessive limb-girdle muscular dystrophy type 2G | Pathogenic/Likely pathogenic
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822125
- GRCh38:
- Chr17:39665872
| TCAP | | not specified, Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25,
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25 | Likely benign
(Feb 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822140
- GRCh38:
- Chr17:39665887
| TCAP | | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25 | Conflicting interpretations of pathogenicity
(May 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:37821710
- GRCh38:
- Chr17:39665457
| TCAP | R33Q | Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not provided
| Uncertain significance
(Mar 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822739
- GRCh38:
- Chr17:39666486
| TCAP | | Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:37822659
- GRCh38:
- Chr17:39666406
| TCAP | | Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G, Autosomal recessive limb-girdle muscular dystrophy type 2G,
Hypertrophic cardiomyopathy 25 | Uncertain significance
(Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822654
- GRCh38:
- Chr17:39666401
| TCAP | | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G,
Hypertrophic cardiomyopathy 25 | Uncertain significance
(Aug 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822438
- GRCh38:
- Chr17:39666185
| TCAP | | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not provided
| Conflicting interpretations of pathogenicity
(Aug 10, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:37821956
- GRCh38:
- Chr17:39665703
| TCAP | | Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:37821956
- GRCh38:
- Chr17:39665703
| TCAP | | Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:37821678
- GRCh38:
- Chr17:39665425
| TCAP | W22* | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Hypertrophic cardiomyopathy 25,
Autosomal recessive limb-girdle muscular dystrophy type 2G, not provided, Cardiovascular phenotype,
Hypertrophic cardiomyopathy 25 | Pathogenic/Likely pathogenic
(Jun 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822171
- GRCh38:
- Chr17:39665918
| TCAP | E105K | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Hypertrophic cardiomyopathy 25,
Autosomal recessive limb-girdle muscular dystrophy type 2G, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2G,
Hypertrophic cardiomyopathy 25 | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37821709
- GRCh38:
- Chr17:39665456
| TCAP | R33W | not provided, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 1,
Cardiovascular phenotype | Uncertain significance
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822306
- GRCh38:
- Chr17:39666053
| TCAP | G150S | Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
Ventricular tachycardia, Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25,
not provided, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jan 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37821636-37821637
- GRCh38:
- Chr17:39665383-39665384
| TCAP | S11* | Autosomal recessive limb-girdle muscular dystrophy type 2G | Likely pathogenic
(Aug 6, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:37822081
- GRCh38:
- Chr17:39665828
| TCAP | G75S | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Cardiovascular phenotype,
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25 | Uncertain significance
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822067
- GRCh38:
- Chr17:39665814
| TCAP | R70Q | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Inborn genetic diseases,
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, not provided
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37821971
- GRCh38:
- Chr17:39665718
| TCAP | C38F | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not specified,
Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
not provided, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:37821600
- GRCh38:
- Chr17:39665347
| TCAP | | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not specified
| Likely benign
(Sep 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822247
- GRCh38:
- Chr17:39665994
| TCAP | R130H | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2G | Uncertain significance
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822259
- GRCh38:
- Chr17:39666006
| TCAP | A134D | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G,
Hypertrophic cardiomyopathy 25, not provided | Uncertain significance
(Dec 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822171
- GRCh38:
- Chr17:39665918
| TCAP | E105Q | Cardiovascular phenotype, not specified, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 25, not provided, Brugada syndrome,
Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
Autosomal recessive limb-girdle muscular dystrophy type 2G | Conflicting interpretations of pathogenicity
(May 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:37822066
- GRCh38:
- Chr17:39665813
| TCAP | R70W | Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not provided,
Hypertrophic cardiomyopathy | Uncertain significance
(Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822279
- GRCh38:
- Chr17:39666026
| TCAP | P141A | not provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 25,
Primary familial hypertrophic cardiomyopathy | Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822195
- GRCh38:
- Chr17:39665942
| TCAP | L113F | Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not specified,
not provided, Primary familial hypertrophic cardiomyopathy | Uncertain significance
(Mar 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37821644
- GRCh38:
- Chr17:39665391
| TCAP | S11L | Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
not specified, not provided, Cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:37821644
- GRCh38:
- Chr17:39665391
| TCAP | S11* | Autosomal recessive limb-girdle muscular dystrophy type 2G | Likely pathogenic
(Nov 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr17:37821672
- GRCh38:
- Chr17:39665419
| TCAP | | Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
not specified, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2G,
Hypertrophic cardiomyopathy 25 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:37822316
- GRCh38:
- Chr17:39666063
| TCAP | R153H | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Cardiovascular phenotype,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not specified,
not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:37822311
- GRCh38:
- Chr17:39666058
| TCAP | | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Cardiovascular phenotype,
not specified, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822246
- GRCh38:
- Chr17:39665993
| TCAP | R130C | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Hypertrophic cardiomyopathy 25,
Autosomal recessive limb-girdle muscular dystrophy type 2G, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G
| Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822174
- GRCh38:
- Chr17:39665921
| TCAP | R106C | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Cardiovascular phenotype,
not specified, not provided, Cardiomyopathy,
Primary familial hypertrophic cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25,
Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37821720-37821721
- GRCh38:
- Chr17:39665467-39665468
| TCAP | | Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25 | Pathogenic
(Jul 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:37822015
- GRCh38:
- Chr17:39665762
| TCAP | Q53* | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Hypertrophic cardiomyopathy 25,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G
| Pathogenic/Likely pathogenic
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |