| - GRCh37:
- Chr11:47353396-47357562
- GRCh38:
- Chr11:47331845-47336011
| MYBPC3 | | Hypertrophic cardiomyopathy | Pathogenic
(Jan 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353402-47370112
- GRCh38:
- Chr11:47331851-47348561
| MYBPC3 | | Hypertrophic cardiomyopathy | Pathogenic
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353402-47374218
- GRCh38:
- Chr11:47331851-47352667
| MYBPC3 | | Hypertrophic cardiomyopathy | Pathogenic
(Apr 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353621
- GRCh38:
- Chr11:47332070
| MYBPC3 | | Primary familial hypertrophic cardiomyopathy | Likely pathogenic
(Nov 2, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353626
- GRCh38:
- Chr11:47332075
| MYBPC3 | R1271* | Long QT syndrome, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 4, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353632
- GRCh38:
- Chr11:47332081
| MYBPC3 | E1269* | Hypertrophic cardiomyopathy 4 | Pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353638
- GRCh38:
- Chr11:47332087
| MYBPC3 | R1267fs | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy | Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353645-47353655
- GRCh38:
- Chr11:47332094-47332104
| MYBPC3 | E1261fs | Cardiovascular phenotype, not provided | Likely pathogenic
(Apr 5, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353646
- GRCh38:
- Chr11:47332095
| MYBPC3 | C1264F | not provided | Likely pathogenic
(Mar 30, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353650
- GRCh38:
- Chr11:47332099
| MYBPC3 | R1263fs | Cardiovascular phenotype | Likely pathogenic
(Feb 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353656
- GRCh38:
- Chr11:47332105
| MYBPC3 | E1261* | not provided | Likely pathogenic
(Sep 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353658
- GRCh38:
- Chr11:47332107
| MYBPC3 | G1260fs | Hypertrophic cardiomyopathy | Pathogenic
(Oct 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353661
- GRCh38:
- Chr11:47332110
| MYBPC3 | | Left ventricular noncompaction, Hypertrophic cardiomyopathy, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Hypertrophic cardiomyopathy 4 | Pathogenic/Likely pathogenic
(Dec 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353662
- GRCh38:
- Chr11:47332111
| MYBPC3 | Q1259* | not provided | Pathogenic
(Feb 28, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353664
- GRCh38:
- Chr11:47332113
| MYBPC3 | L1258* | Hypertrophic cardiomyopathy | Pathogenic
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353664
- GRCh38:
- Chr11:47332113
| MYBPC3 | L1258* | Hypertrophic cardiomyopathy, Cardiovascular phenotype, not provided
| Pathogenic/Likely pathogenic
(Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353666-47353669
- GRCh38:
- Chr11:47332115-47332118
| MYBPC3 | N1257fs | Hypertrophic cardiomyopathy 4 | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353668-47353670
- GRCh38:
- Chr11:47332117-47332119
| MYBPC3 | T1256del | Cardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
| Likely pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353671
- GRCh38:
- Chr11:47332120
| MYBPC3 | T1256fs | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 | Pathogenic
(Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353674
- GRCh38:
- Chr11:47332123
| MYBPC3 | | not provided | Likely pathogenic
(Nov 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353677-47353678
- GRCh38:
- Chr11:47332126-47332127
| MYBPC3 | R1254fs | Cardiomyopathy, Hypertrophic cardiomyopathy 4 | Likely pathogenic
(Jan 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353677-47353678
- GRCh38:
- Chr11:47332126-47332127
| MYBPC3 | | Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Cardiomyopathy, not provided, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353684-47353685
- GRCh38:
- Chr11:47332133-47332134
| MYBPC3 | Y1251fs | Cardiomyopathy, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Jul 31, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353684
- GRCh38:
- Chr11:47332133
| MYBPC3 | Y1251* | Hypertrophic cardiomyopathy | Pathogenic
(Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353691
- GRCh38:
- Chr11:47332140
| MYBPC3 | G1249fs | Hypertrophic cardiomyopathy | Pathogenic
(Oct 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353697
- GRCh38:
- Chr11:47332146
| MYBPC3 | D1247G | not provided | Likely pathogenic
(May 21, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353702
- GRCh38:
- Chr11:47332151
| MYBPC3 | F1246fs | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353705
- GRCh38:
- Chr11:47332154
| MYBPC3 | C1244* | not provided, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Aug 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353707-47353708
- GRCh38:
- Chr11:47332156-47332157
| MYBPC3 | C1244fs | not provided | Likely pathogenic
(Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353711
- GRCh38:
- Chr11:47332160
| MYBPC3 | K1242fs | Hypertrophic cardiomyopathy, not provided | Pathogenic/Likely pathogenic
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353723-47353724
- GRCh38:
- Chr11:47332172-47332173
| MYBPC3 | L1238fs | Hypertrophic cardiomyopathy, Cardiomyopathy | Pathogenic/Likely pathogenic
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353724-47353725
- GRCh38:
- Chr11:47332173-47332174
| MYBPC3 | L1238fs | Hypertrophic cardiomyopathy 1 | Pathogenic
(Jun 4, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353724
- GRCh38:
- Chr11:47332173
| MYBPC3 | L1238P | not provided, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
| Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353734-47353735
- GRCh38:
- Chr11:47332183-47332184
| MYBPC3 | L1236fs | Hypertrophic cardiomyopathy, Cardiovascular phenotype | Pathogenic
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353740
- GRCh38:
- Chr11:47332189
| MYBPC3 | Q1233* | Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
not provided, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, See cases
| Pathogenic/Likely pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353743
- GRCh38:
- Chr11:47332192
| MYBPC3 | K1232* | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Sep 28, 2011) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353745-47353746
- GRCh38:
- Chr11:47332194-47332195
| MYBPC3 | S1231fs | Hypertrophic cardiomyopathy | Pathogenic
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353746-47353747
- GRCh38:
- Chr11:47332195-47332196
| MYBPC3 | F1230fs | Hypertrophic cardiomyopathy | Pathogenic
(Mar 5, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr11:47353759-47353760
- GRCh38:
- Chr11:47332208-47332209
| MYBPC3 | F1227fs | Hypertrophic cardiomyopathy 4 | Pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353769-47353770
- GRCh38:
- Chr11:47332218-47332219
| MYBPC3 | E1223fs | not provided | Likely pathogenic
(Jul 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353772
- GRCh38:
- Chr11:47332221
| MYBPC3 | G1222fs | Hypertrophic cardiomyopathy | Pathogenic
(Sep 26, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353773
- GRCh38:
- Chr11:47332222
| MYBPC3 | G1222* | not provided, Hypertrophic cardiomyopathy | Pathogenic
(Apr 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353775
- GRCh38:
- Chr11:47332224
| MYBPC3 | L1221fs | MYBPC3-Related Disorders, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
| Pathogenic/Likely pathogenic
(Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353775-47353778
- GRCh38:
- Chr11:47332224-47332227
| MYBPC3 | D1220fs | Hypertrophic cardiomyopathy 4 | Pathogenic
(Mar 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr11:47353792-47353793
- GRCh38:
- Chr11:47332241-47332242
| MYBPC3 | K1216fs | Hypertrophic cardiomyopathy | Pathogenic
(Mar 21, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353795
- GRCh38:
- Chr11:47332244
| MYBPC3 | W1214* | Primary dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy,
Cardiovascular phenotype, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
| Pathogenic/Likely pathogenic
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353796
- GRCh38:
- Chr11:47332245
| MYBPC3 | W1214* | not provided, Hypertrophic cardiomyopathy | Pathogenic
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353810-47356592
- GRCh38:
- Chr11:47332259-47335041
| MYBPC3 | | Cardiomyopathy | Pathogenic
(Nov 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354097-47354151
- GRCh38:
- Chr11:47332546-47332600
| MYBPC3 | | Cardiovascular phenotype | Likely pathogenic
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354097-47355581
- GRCh38:
- Chr11:47332546-47334030
| MYBPC3 | | Hypertrophic cardiomyopathy | Pathogenic
(Sep 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354115
- GRCh38:
- Chr11:47332564
| MYBPC3 | | Hypertrophic cardiomyopathy | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354115
- GRCh38:
- Chr11:47332564
| MYBPC3 | | Hypertrophic cardiomyopathy | Likely pathogenic
(Jun 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354115
- GRCh38:
- Chr11:47332564
| MYBPC3 | | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy
| Pathogenic
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354116
- GRCh38:
- Chr11:47332565
| MYBPC3 | | Cardiovascular phenotype, not provided, Cardiomyopathy,
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy | Pathogenic
(Dec 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354117-47355561
- GRCh38:
- Chr11:47332566-47334010
| MYBPC3 | | Hypertrophic cardiomyopathy | Pathogenic
(Jul 2, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354119-47354120
- GRCh38:
- Chr11:47332568-47332569
| MYBPC3 | K1209fs | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354120
- GRCh38:
- Chr11:47332569
| MYBPC3 | | not provided, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy | Pathogenic
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354124
- GRCh38:
- Chr11:47332573
| MYBPC3 | S1207fs | Cardiomyopathy | Likely pathogenic
(Jan 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354127
- GRCh38:
- Chr11:47332576
| MYBPC3 | G1206fs | not provided, Cardiomyopathy, Hypertrophic cardiomyopathy
| Pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354132-47354133
- GRCh38:
- Chr11:47332581-47332582
| MYBPC3 | R1205fs | Cardiovascular phenotype | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354133
- GRCh38:
- Chr11:47332582
| MYBPC3 | V1204A | not provided | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:47354134-47354135
- GRCh38:
- Chr11:47332583-47332584
| MYBPC3 | V1204fs | Hypertrophic cardiomyopathy | Pathogenic
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354135-47354144
- GRCh38:
- Chr11:47332584-47332593
| MYBPC3 | C1201fs | Cardiomyopathy, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Jun 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354156
- GRCh38:
- Chr11:47332605
| MYBPC3 | Y1196* | not provided | Likely pathogenic
(Nov 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354171-47354174
- GRCh38:
- Chr11:47332620-47332623
| MYBPC3 | V1192fs | Hypertrophic cardiomyopathy | Pathogenic
(May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354172
- GRCh38:
- Chr11:47332621
| MYBPC3 | S1191* | Hypertrophic cardiomyopathy | Pathogenic
(Aug 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354184
- GRCh38:
- Chr11:47332633
| MYBPC3 | L1187fs | Hypertrophic cardiomyopathy | Pathogenic
(Aug 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354185
- GRCh38:
- Chr11:47332634
| MYBPC3 | L1187fs | Hypertrophic cardiomyopathy 4 | Pathogenic
(Nov 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354191
- GRCh38:
- Chr11:47332640
| MYBPC3 | Q1185* | Cardiovascular phenotype, Hypertrophic cardiomyopathy, not provided
| Pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354194-47354195
- GRCh38:
- Chr11:47332643-47332644
| MYBPC3 | T1184fs | Hypertrophic cardiomyopathy | Likely pathogenic
(Oct 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354203
- GRCh38:
- Chr11:47332652
| MYBPC3 | P1181A | not provided | Likely pathogenic
(Mar 6, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354226-47354227
- GRCh38:
- Chr11:47332675-47332676
| MYBPC3 | | not provided | Pathogenic
(Mar 26, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354232
- GRCh38:
- Chr11:47332681
| MYBPC3 | N1171fs | Hypertrophic cardiomyopathy | Pathogenic
(Nov 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354254
- GRCh38:
- Chr11:47332703
| MYBPC3 | | Cardiovascular phenotype | Pathogenic
(Feb 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354255
- GRCh38:
- Chr11:47332704
| MYBPC3 | | Cardiovascular phenotype | Likely pathogenic
(Mar 23, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354255
- GRCh38:
- Chr11:47332704
| MYBPC3 | | not provided, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(May 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354256
- GRCh38:
- Chr11:47332705
| MYBPC3 | | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy
| Likely pathogenic
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354364
- GRCh38:
- Chr11:47332813
| MYBPC3 | | MYBPC3-Related Disorders, Cardiovascular phenotype, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354364
- GRCh38:
- Chr11:47332813
| MYBPC3 | | not provided, Hypertrophic cardiomyopathy | Pathogenic
(May 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354374-47354383
- GRCh38:
- Chr11:47332823-47332832
| MYBPC3 | V1158fs | Cardiomyopathy | Pathogenic
(Aug 15, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354375-47354376
- GRCh38:
- Chr11:47332824-47332825
| MYBPC3 | P1161fs | not provided, Cardiomyopathy, Hypertrophic cardiomyopathy
| Pathogenic
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354378-47354379
- GRCh38:
- Chr11:47332827-47332828
| MYBPC3 | F1159fs | Hypertrophic cardiomyopathy | Pathogenic
(Oct 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354378-47354379
- GRCh38:
- Chr11:47332827-47332828
| MYBPC3 | F1159fs | Cardiomyopathy | Likely pathogenic
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354383-47354384
- GRCh38:
- Chr11:47332832-47332833
| MYBPC3 | V1158fs | Cardiomyopathy | Likely pathogenic
(Jun 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354384
- GRCh38:
- Chr11:47332833
| MYBPC3 | V1158fs | Hypertrophic cardiomyopathy 4 | Likely pathogenic
(Mar 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354387-47354388
- GRCh38:
- Chr11:47332836-47332837
| MYBPC3 | P1157fs | not provided, Hypertrophic cardiomyopathy, Left ventricular noncompaction 10
| Pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354389
- GRCh38:
- Chr11:47332838
| MYBPC3 | E1156fs | Hypertrophic cardiomyopathy | Pathogenic
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354431
- GRCh38:
- Chr11:47332880
| MYBPC3 | Q1142* | Hypertrophic cardiomyopathy | Pathogenic
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354440-47354441
- GRCh38:
- Chr11:47332889-47332890
| MYBPC3 | V1139fs | Hypertrophic cardiomyopathy 4 | Likely pathogenic
(Dec 3, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354443
- GRCh38:
- Chr11:47332892
| MYBPC3 | R1138fs | Cardiomyopathy | Likely pathogenic
(Jun 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354447
- GRCh38:
- Chr11:47332896
| MYBPC3 | Y1136* | Hypertrophic cardiomyopathy | Pathogenic
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354447
- GRCh38:
- Chr11:47332896
| MYBPC3 | Y1136* | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy
| Pathogenic
(Dec 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354453
- GRCh38:
- Chr11:47332902
| MYBPC3 | Y1135fs | Hypertrophic cardiomyopathy | Pathogenic
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354483
- GRCh38:
- Chr11:47332932
| MYBPC3 | C1124* | Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy | Pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354485-47354486
- GRCh38:
- Chr11:47332934-47332935
| MYBPC3 | C1124fs | Cardiovascular phenotype | Pathogenic
(Dec 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354498
- GRCh38:
- Chr11:47332947
| MYBPC3 | Y1119* | Hypertrophic cardiomyopathy | Pathogenic
(Mar 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354498
- GRCh38:
- Chr11:47332947
| MYBPC3 | Y1119* | Hypertrophic cardiomyopathy | Pathogenic
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354519-47354520
- GRCh38:
- Chr11:47332968-47332969
| MYBPC3 | W1112* | not provided, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354520
- GRCh38:
- Chr11:47332969
| MYBPC3 | W1112* | not provided, Hypertrophic cardiomyopathy | Pathogenic
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354525
- GRCh38:
- Chr11:47332974
| MYBPC3 | | Cardiovascular phenotype, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |