| - GRCh37:
- Chr20:42806617
- GRCh38:
- Chr20:44177977
| JPH2 | | Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:42814973
- GRCh38:
- Chr20:44186333
| JPH2 | D125N | Cardiovascular phenotype, Hypertrophic cardiomyopathy 17 | Uncertain significance
(Jan 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744717
- GRCh38:
- Chr20:44116077
| JPH2 | R533H | Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17, Cardiovascular phenotype
| Uncertain significance
(Mar 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744898
- GRCh38:
- Chr20:44116258
| JPH2 | H473Y | Hypertrophic cardiomyopathy 17, Cardiovascular phenotype | Uncertain significance
(Dec 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42815289
- GRCh38:
- Chr20:44186649
| JPH2 | E19D | Cardiovascular phenotype, Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy
| Uncertain significance
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788880
- GRCh38:
- Chr20:44160240
| JPH2 | P183A | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy, dilated, 2E,
Hypertrophic cardiomyopathy 17 | Uncertain significance
(Feb 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42789067
- GRCh38:
- Chr20:44160427
| JPH2 | | Hypertrophic cardiomyopathy, Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17
| Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788912
- GRCh38:
- Chr20:44160272
| JPH2 | N172S | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E
| Uncertain significance
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788886
- GRCh38:
- Chr20:44160246
| JPH2 | A181T | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy, dilated, 2E,
Hypertrophic cardiomyopathy 17 | Uncertain significance
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744457
- GRCh38:
- Chr20:44115817
| JPH2 | A620T | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17,
Cardiomyopathy, dilated, 2E | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744738
- GRCh38:
- Chr20:44116098
| JPH2 | P526L | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17,
Cardiomyopathy, dilated, 2E | Uncertain significance
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744562
- GRCh38:
- Chr20:44115922
| JPH2 | P585S | Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E, Cardiovascular phenotype,
Hypertrophic cardiomyopathy | Uncertain significance
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42815069
- GRCh38:
- Chr20:44186429
| JPH2 | R93C | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17,
Cardiomyopathy, dilated, 2E | Uncertain significance
(Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42815269
- GRCh38:
- Chr20:44186629
| JPH2 | H26R | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17,
Cardiomyopathy, dilated, 2E | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788465
- GRCh38:
- Chr20:44159825
| JPH2 | N321S | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17, Cardiovascular phenotype,
Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E | Uncertain significance
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788922
- GRCh38:
- Chr20:44160282
| JPH2 | E169K | Hypertrophic cardiomyopathy 17 | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:42815124
- GRCh38:
- Chr20:44186484
| JPH2 | I74M | Hypertrophic cardiomyopathy 17 | Uncertain significance
(Nov 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:42744543
- GRCh38:
- Chr20:44115903
| JPH2 | G591V | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17,
Cardiomyopathy, dilated, 2E, not provided | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788598
- GRCh38:
- Chr20:44159958
| JPH2 | A277S | Hypertrophic cardiomyopathy, Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17,
Cardiovascular phenotype | Uncertain significance
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744807
- GRCh38:
- Chr20:44116167
| JPH2 | K503R | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E
| Uncertain significance
(Nov 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744303-42744304
- GRCh38:
- Chr20:44115663-44115664
| JPH2 | | Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy
| Uncertain significance
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788511
- GRCh38:
- Chr20:44159871
| JPH2 | S306G | Hypertrophic cardiomyopathy 17 | Uncertain significance
(Jul 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:42744333
- GRCh38:
- Chr20:44115693
| JPH2 | A661E | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E
| Uncertain significance
(Oct 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788478
- GRCh38:
- Chr20:44159838
| JPH2 | E317K | Hypertrophic cardiomyopathy, Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744583
- GRCh38:
- Chr20:44115943
| JPH2 | P578T | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy, dilated, 2E,
Hypertrophic cardiomyopathy 17 | Uncertain significance
(May 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744670
- GRCh38:
- Chr20:44116030
| JPH2 | Q549* | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E
| Uncertain significance
(Feb 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744448
- GRCh38:
- Chr20:44115808
| JPH2 | E623Q | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E
| Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744879
- GRCh38:
- Chr20:44116239
| JPH2 | R479L | Hypertrophic cardiomyopathy, Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17,
Cardiovascular phenotype | Uncertain significance
(Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744351
- GRCh38:
- Chr20:44115711
| JPH2 | R655Q | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17,
Cardiomyopathy, dilated, 2E | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42815155
- GRCh38:
- Chr20:44186515
| JPH2 | W64* | Hypertrophic cardiomyopathy 17 | Likely pathogenic
(Jun 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr20:42744340
- GRCh38:
- Chr20:44115700
| JPH2 | A659T | Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17, not provided
| Uncertain significance
(Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744378
- GRCh38:
- Chr20:44115738
| JPH2 | T646S | Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17, not provided,
Hypertrophic cardiomyopathy | Uncertain significance
(Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42814985
- GRCh38:
- Chr20:44186345
| JPH2 | E121K | Hypertrophic cardiomyopathy, Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17
| Uncertain significance
(Sep 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788837
- GRCh38:
- Chr20:44160197
| JPH2 | R197L | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy, dilated, 2E,
Hypertrophic cardiomyopathy 17 | Uncertain significance
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744818
- GRCh38:
- Chr20:44116178
| JPH2 | | Cardiovascular phenotype, Hypertrophic cardiomyopathy 17 | Likely benign
(Dec 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788617
- GRCh38:
- Chr20:44159977
| JPH2 | | not provided, Hypertrophic cardiomyopathy | Likely benign
(Apr 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744421
- GRCh38:
- Chr20:44115781
| JPH2 | E632K | Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy,
not provided, Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17
| Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788248
- GRCh38:
- Chr20:44159608
| JPH2 | | not specified, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17
| Likely benign
(May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788807
- GRCh38:
- Chr20:44160167
| JPH2 | N207S | Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17, Cardiovascular phenotype,
Hypertrophic cardiomyopathy | Uncertain significance
(Jun 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744921
- GRCh38:
- Chr20:44116281
| JPH2 | P465L | Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17, Cardiovascular phenotype,
Hypertrophic cardiomyopathy | Uncertain significance
(Sep 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42747220
- GRCh38:
- Chr20:44118580
| JPH2 | A405T | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17
| Uncertain significance
(Feb 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788394
- GRCh38:
- Chr20:44159754
| JPH2 | V345L | Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy,
not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42815120
- GRCh38:
- Chr20:44186480
| JPH2 | T76A | not provided, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17,
Cardiomyopathy, dilated, 2E | Uncertain significance
(Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744601
- GRCh38:
- Chr20:44115961
| JPH2 | R572C | not provided, Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17,
Cardiovascular phenotype, Hypertrophic cardiomyopathy | Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42815047
- GRCh38:
- Chr20:44186407
| JPH2 | S100L | not provided, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E,
Cardiovascular phenotype, Hypertrophic cardiomyopathy | Uncertain significance
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42745023
- GRCh38:
- Chr20:44116383
| JPH2 | P431L | Cardiovascular phenotype, Hypertrophic cardiomyopathy, not provided,
Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E | Uncertain significance
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42815068
- GRCh38:
- Chr20:44186428
| JPH2 | R93H | not provided, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 17,
Cardiomyopathy, dilated, 2E | Uncertain significance
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744356-42744358
- GRCh38:
- Chr20:44115716-44115718
| JPH2 | K653del | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17,
Cardiomyopathy, dilated, 2E, not provided | Uncertain significance
(Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788589
- GRCh38:
- Chr20:44159949
| JPH2 | E280K | Cardiovascular phenotype, Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy,
not specified | Conflicting interpretations of pathogenicity
(Feb 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:42788349
- GRCh38:
- Chr20:44159709
| JPH2 | N360H | not provided, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E,
Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788848
- GRCh38:
- Chr20:44160208
| JPH2 | | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E,
Cardiovascular phenotype | Likely benign
(Aug 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744882
- GRCh38:
- Chr20:44116242
| JPH2 | P478L | Cardiovascular phenotype, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E,
not provided, Hypertrophic cardiomyopathy | Uncertain significance
(Apr 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744749
- GRCh38:
- Chr20:44116109
| JPH2 | | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E | Benign/Likely benign
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744958
- GRCh38:
- Chr20:44116318
| JPH2 | P453S | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy, dilated, 2E,
Hypertrophic cardiomyopathy 17 | Uncertain significance
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744325
- GRCh38:
- Chr20:44115685
| JPH2 | A664T | Cardiovascular phenotype, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E
| Uncertain significance
(Oct 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744521
- GRCh38:
- Chr20:44115881
| JPH2 | | Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy
| Benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788779
- GRCh38:
- Chr20:44160139
| JPH2 | | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17, Cardiovascular phenotype,
not provided | Benign/Likely benign
(Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788558
- GRCh38:
- Chr20:44159918
| JPH2 | T290I | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17,
Cardiomyopathy, dilated, 2E | Uncertain significance
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788735
- GRCh38:
- Chr20:44160095
| JPH2 | R231Q | Inborn genetic diseases, Cardiovascular phenotype, not provided,
Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17,
Cardiomyopathy, dilated, 2E | Uncertain significance
(Apr 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42747151
- GRCh38:
- Chr20:44118511
| JPH2 | Q428* | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E,
Cardiomyopathy, dilated, 2E | Uncertain significance
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788865
- GRCh38:
- Chr20:44160225
| JPH2 | P188S | Cardiovascular phenotype, Hypertrophic cardiomyopathy 17, not provided,
Hypertrophic cardiomyopathy, Cardiomyopathy | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788766
- GRCh38:
- Chr20:44160126
| JPH2 | F221L | Cardiovascular phenotype, not specified, not provided,
Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:42788790
- GRCh38:
- Chr20:44160150
| JPH2 | R213W | Cardiovascular phenotype, not specified, not provided,
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17, Cardiomyopathy, dilated, 2E
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:42788969
- GRCh38:
- Chr20:44160329
| JPH2 | V153A | not provided, Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy
| Uncertain significance
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42815218
- GRCh38:
- Chr20:44186578
| JPH2 | N43S | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 17,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:42744935
- GRCh38:
- Chr20:44116295
| JPH2 | | not specified, Hypertrophic cardiomyopathy 17, Cardiovascular phenotype,
not provided, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:42742143
- GRCh38:
- Chr20:44113503
| JPH2 | | not provided, Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17
| Uncertain significance
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42747229
- GRCh38:
- Chr20:44118589
| JPH2 | E402K | Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, not specified,
not provided, Cardiomyopathy, dilated, 2E, Hypertrophic cardiomyopathy 17,
Hypertrophic cardiomyopathy | Uncertain significance
(Nov 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42743454
- GRCh38:
- Chr20:44114814
| JPH2 | | Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy 17,
Hypertrophic cardiomyopathy | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744344
- GRCh38:
- Chr20:44115704
| JPH2 | | Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy 17,
Hypertrophic cardiomyopathy | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42744587
- GRCh38:
- Chr20:44115947
| JPH2 | | Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy 17,
Hypertrophic cardiomyopathy | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42745033
- GRCh38:
- Chr20:44116393
| JPH2 | | not specified, not provided, Hypertrophic cardiomyopathy 17,
Hypertrophic cardiomyopathy | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42747247
- GRCh38:
- Chr20:44118607
| JPH2 | A396T | Cardiomyopathy, dilated, 2E, Cardiovascular phenotype, not specified,
Long QT syndrome, Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42747254
- GRCh38:
- Chr20:44118614
| JPH2 | | Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy 17,
Hypertrophic cardiomyopathy | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42789053
- GRCh38:
- Chr20:44160413
| JPH2 | | not specified, Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy
| Benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42789056
- GRCh38:
- Chr20:44160416
| JPH2 | | not specified, not provided, Hypertrophic cardiomyopathy
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42815190
- GRCh38:
- Chr20:44186550
| JPH2 | | Cardiomyopathy, dilated, 2E, Cardiovascular phenotype, not specified,
not provided, Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788803
- GRCh38:
- Chr20:44160163
| JPH2 | | Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy 17,
Hypertrophic cardiomyopathy, not provided | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:42744802
- GRCh38:
- Chr20:44116162
| JPH2 | G505S | Cardiovascular phenotype, not specified, not provided,
Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy | Benign
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:42788933
- GRCh38:
- Chr20:44160293
| JPH2 | S165F | Hypertrophic cardiomyopathy 17 | Pathogenic
(Jun 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr20:42789006
- GRCh38:
- Chr20:44160366
| JPH2 | Y141H | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 1
| Conflicting interpretations of pathogenicity
(Jul 20, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:42815045
- GRCh38:
- Chr20:44186405
| JPH2 | S101R | Hypertrophic cardiomyopathy 17 | Pathogenic
(Jun 1, 2007) | no assertion criteria provided |