| - GRCh37:
- Chr11:17926636-19696051
- GRCh38:
- Chr11:17905089-19674505
| CSRP3, CSRP3-AS1, E2F8, GTF2H1, HPS5, IGSF22, IGSF22-AS1, LDHA, LDHAL6A, LDHC, LOC110121487, LOC110121488, LOC112067715, LOC112067716, LOC121392892, LOC121392893, LOC124421503, LOC124421504, LOC126861152, LOC126861153, LOC126861154, LOC126861155, LOC126861156, LOC129390268, LOC129390269, LOC129390270, LOC130005395, LOC130005396, LOC130005397, LOC130005398, LOC130005399, LOC130005400, LOC130005401, LOC130005402, LOC130005403, LOC130005404, LOC130005405, LOC130005406, LOC130005407, LOC130005408, LOC130005409, LOC130005410, LOC130005411, LOC130005412, LOC130005413, LOC130005414, LOC130005415, LOC130005416, LOC130005417, LOC130005418, LOC130005419, LOC130005420, LOC130005421, LOC130005422, LOC130005423, LOC130005424, LOC130005425, LOC130005426, LOC130005427, LOC130005428, LOC130005429, LOC130005430, LOC130005431, LOC130005432, LOC132090834, MIR3159, MIR4486, MISFA, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, NAV2, NAV2-AS4, NAV2-AS5, PTPN5, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SERGEF, SPTY2D1, TMEM86A, TPH1, TSG101, UEVLD, ZDHHC13 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:18547769-20769671
- GRCh38:
- Chr11:18526222-20748125
| CSRP3, CSRP3-AS1, DBX1, E2F8, HTATIP2, IGSF22, IGSF22-AS1, LEISA1, LOC110121487, LOC110121488, LOC111365162, LOC112067715, LOC112067716, LOC121392893, LOC124421503, LOC124421504, LOC124421505, LOC124421506, LOC124421507, LOC126861153, LOC126861154, LOC126861155, LOC126861156, LOC126861157, LOC126861158, LOC126861159, LOC129390269, LOC129390270, LOC130005407, LOC130005408, LOC130005409, LOC130005410, LOC130005411, LOC130005412, LOC130005413, LOC130005414, LOC130005415, LOC130005416, LOC130005417, LOC130005418, LOC130005419, LOC130005420, LOC130005421, LOC130005422, LOC130005423, LOC130005424, LOC130005425, LOC130005426, LOC130005427, LOC130005428, LOC130005429, LOC130005430, LOC130005431, LOC130005432, LOC130005433, LOC130005434, LOC130005435, LOC130005436, LOC132089909, LOC132089910, LOC132089911, LOC132089912, LOC132089913, LOC132089914, LOC132090834, LOC132090835, MIR4486, MIR4694, MISFA, MRGPRX1, MRGPRX2, NAV2, NAV2-AS2, NAV2-AS3, NAV2-AS4, NAV2-AS5, NELL1, PRMT3, PTPN5, SLC6A5, SPTY2D1, TMEM86A, TSG101, UEVLD, ZDHHC13 | | See cases | Uncertain significance (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr11:19203579
- GRCh38:
- Chr11:19182032
| CSRP3 | | Hypertrophic cardiomyopathy 12, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
| Uncertain significance (Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19203588
- GRCh38:
- Chr11:19182041
| CSRP3 | | Hypertrophic cardiomyopathy 12 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19203642
- GRCh38:
- Chr11:19182095
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
| Uncertain significance (Oct 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19203658
- GRCh38:
- Chr11:19182111
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
| Uncertain significance (Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19203713
- GRCh38:
- Chr11:19182166
| CSRP3 | | Hypertrophic cardiomyopathy 12 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19203767
- GRCh38:
- Chr11:19182220
| CSRP3 | | Hypertrophic cardiomyopathy 12 | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19203802
- GRCh38:
- Chr11:19182255
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
| Uncertain significance (Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19203925
- GRCh38:
- Chr11:19182378
| CSRP3 | | Hypertrophic cardiomyopathy 12 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19203972
- GRCh38:
- Chr11:19182425
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
| Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204043
- GRCh38:
- Chr11:19182496
| CSRP3 | | not provided | Likely benign (Jul 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204058
- GRCh38:
- Chr11:19182511
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
| Uncertain significance (Jul 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204205
- GRCh38:
- Chr11:19182658
| CSRP3 | R143H | not specified, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Cardiomyopathy | Benign/Likely benign (Aug 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204219
- GRCh38:
- Chr11:19182672
| CSRP3 | | Hypertrophic cardiomyopathy 12 | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204219
- GRCh38:
- Chr11:19182672
| CSRP3 | N138K | Cardiovascular phenotype, CSRP3-Related Disorders | Uncertain significance (Aug 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204220
- GRCh38:
- Chr11:19182673
| CSRP3 | N138S | Cardiovascular phenotype | Likely benign (Feb 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204220-19204223
- GRCh38:
- Chr11:19182673-19182676
| CSRP3 | K193fs, K137fs | not specified | Uncertain significance (Dec 22, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204222
- GRCh38:
- Chr11:19182675
| CSRP3 | E194Q, K137N | Cardiovascular phenotype | Uncertain significance (Sep 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204226
- GRCh38:
- Chr11:19182679
| CSRP3 | K192N, R136T | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiovascular phenotype
| Uncertain significance (Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204227
- GRCh38:
- Chr11:19182680
| CSRP3 | R136fs, K192fs | Cardiovascular phenotype, not provided | Uncertain significance (Jul 10, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204230
- GRCh38:
- Chr11:19182683
| CSRP3 | E191V, K135* | Cardiovascular phenotype | Uncertain significance (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204234
- GRCh38:
- Chr11:19182687
| CSRP3 | V190L, K133N | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy
| Uncertain significance (Jun 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204235-19204237
- GRCh38:
- Chr11:19182688-19182690
| CSRP3 | Q189del, N132del | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, not provided
| Uncertain significance (Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204240
- GRCh38:
- Chr11:19182693
| CSRP3 | H131Q, Q188E | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 | Uncertain significance (Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204249
- GRCh38:
- Chr11:19182702
| CSRP3 | G185S | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Uncertain significance (May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204251
- GRCh38:
- Chr11:19182704
| CSRP3 | E128K, G184E | not provided | Uncertain significance (Nov 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204258
- GRCh38:
- Chr11:19182711
| CSRP3 | G182R, L125F | Cardiovascular phenotype, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, not specified | Uncertain significance (Feb 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204259
- GRCh38:
- Chr11:19182712
| CSRP3 | I181fs, L125fs | not provided | Uncertain significance (Apr 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204260
- GRCh38:
- Chr11:19182713
| CSRP3 | I181T | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Inborn genetic diseases
| Uncertain significance (Aug 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204261
- GRCh38:
- Chr11:19182714
| CSRP3 | I181V | Cardiovascular phenotype | Uncertain significance (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204263
- GRCh38:
- Chr11:19182716
| CSRP3 | G180V, V124L | Cardiovascular phenotype, not specified | Uncertain significance (Feb 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204264
- GRCh38:
- Chr11:19182717
| CSRP3 | G180C | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
| Conflicting interpretations of pathogenicity (Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:19204265
- GRCh38:
- Chr11:19182718
| CSRP3 | R123Q | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
| Uncertain significance (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204266
- GRCh38:
- Chr11:19182719
| CSRP3 | T179M, R123W | CSRP3-related condition, Cardiovascular phenotype, not specified, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, not provided, Hypertrophic cardiomyopathy 12 | Conflicting interpretations of pathogenicity (Sep 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:19204267
- GRCh38:
- Chr11:19182720
| CSRP3 | T179A | Cardiovascular phenotype, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, not provided, Cardiomyopathy | Uncertain significance (May 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204270
- GRCh38:
- Chr11:19182723
| CSRP3 | P178A | not provided, Cardiovascular phenotype | Uncertain significance (Jul 20, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204270
- GRCh38:
- Chr11:19182723
| CSRP3 | P178S | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Uncertain significance (Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204276
- GRCh38:
- Chr11:19182729
| CSRP3 | F176V, I119M | Cardiomyopathy | Uncertain significance (Aug 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204277-19204278
- GRCh38:
- Chr11:19182730-19182731
| CSRP3 | I119fs, N175fs | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 | Uncertain significance (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204278
- GRCh38:
- Chr11:19182731
| CSRP3 | I119V, N175S | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Uncertain significance (Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204284
- GRCh38:
- Chr11:19182737
| CSRP3 | P117S, A173V | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 | Uncertain significance (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204286
- GRCh38:
- Chr11:19182739
| CSRP3 | Y172*, M116K | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Uncertain significance (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204286
- GRCh38:
- Chr11:19182739
| CSRP3 | M116T | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, not specified, not provided | Likely benign (Jun 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204288
- GRCh38:
- Chr11:19182741
| CSRP3 | Y172H | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204289
- GRCh38:
- Chr11:19182742
| CSRP3 | A115V | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiovascular phenotype
| Likely benign (Nov 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204291
- GRCh38:
- Chr11:19182744
| CSRP3 | C171R | Cardiovascular phenotype | Uncertain significance (Dec 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204291
- GRCh38:
- Chr11:19182744
| CSRP3 | C171G, F114L | Cardiomyopathy | Uncertain significance (Jan 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204295-19204296
- GRCh38:
- Chr11:19182748-19182749
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, not specified, not provided | Conflicting interpretations of pathogenicity (Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:19204298
- GRCh38:
- Chr11:19182751
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Likely benign (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204300
- GRCh38:
- Chr11:19182753
| CSRP3 | | Cardiomyopathy | Uncertain significance (Aug 28, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204301
- GRCh38:
- Chr11:19182754
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Likely benign (Sep 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204309
- GRCh38:
- Chr11:19182762
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, not specified
| Likely benign (Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19204313
- GRCh38:
- Chr11:19182766
| CSRP3 | | not specified | Uncertain significance (Jul 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204313
- GRCh38:
- Chr11:19182766
| CSRP3 | | not specified | Benign (Sep 22, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204403
- GRCh38:
- Chr11:19182856
| CSRP3 | | not provided | Benign (Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204423
- GRCh38:
- Chr11:19182876
| CSRP3 | | not provided | Likely benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204494
- GRCh38:
- Chr11:19182947
| CSRP3 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19204508
- GRCh38:
- Chr11:19182961
| CSRP3 | | not provided | Benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206386
- GRCh38:
- Chr11:19184839
| CSRP3 | | not provided | Likely benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206426
- GRCh38:
- Chr11:19184879
| CSRP3 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206481
- GRCh38:
- Chr11:19184934
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, not specified, not provided | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206482
- GRCh38:
- Chr11:19184935
| CSRP3 | | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 | Likely benign (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206482
- GRCh38:
- Chr11:19184935
| CSRP3 | | not specified | Likely benign (Dec 20, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206483-19206484
- GRCh38:
- Chr11:19184936-19184937
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Likely benign (Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206490
- GRCh38:
- Chr11:19184943
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, not specified
| Benign/Likely benign (Mar 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206492
- GRCh38:
- Chr11:19184945
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Likely benign (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206494
- GRCh38:
- Chr11:19184947
| CSRP3 | | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 | Uncertain significance (Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206497
- GRCh38:
- Chr11:19184950
| CSRP3 | | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 | Uncertain significance (Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206499
- GRCh38:
- Chr11:19184952
| CSRP3 | V170F, K113N | not specified | Uncertain significance (Oct 20, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206506
- GRCh38:
- Chr11:19184959
| CSRP3 | I111T | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Likely benign (May 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206510
- GRCh38:
- Chr11:19184963
| CSRP3 | L166R, F110V | Cardiomyopathy | Uncertain significance (Aug 24, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206511
- GRCh38:
- Chr11:19184964
| CSRP3 | N109K, L166V | not provided, Cardiovascular phenotype | Uncertain significance (Dec 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206517
- GRCh38:
- Chr11:19184970
| CSRP3 | M107I, G164R | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206523-19206524
- GRCh38:
- Chr11:19184976-19184977
| CSRP3 | K162fs, M107fs | Hypertrophic cardiomyopathy 1 | Uncertain significance (Mar 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206527
- GRCh38:
- Chr11:19184980
| CSRP3 | L104P | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Likely benign (Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206535
- GRCh38:
- Chr11:19184988
| CSRP3 | N158D | not provided, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
| Uncertain significance (Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206539
- GRCh38:
- Chr11:19184992
| CSRP3 | P100fs, T157fs | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Uncertain significance (Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206540
- GRCh38:
- Chr11:19184993
| CSRP3 | P100S, S156F | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, not provided
| Uncertain significance (Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206542
- GRCh38:
- Chr11:19184995
| CSRP3 | S99N | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, not provided
| Likely benign (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206542
- GRCh38:
- Chr11:19184995
| CSRP3 | E155D, S99I | not specified | Likely benign (Jan 14, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206546
- GRCh38:
- Chr11:19184999
| CSRP3 | L154R, W98G | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206548
- GRCh38:
- Chr11:19185001
| CSRP3 | S153R, V97D | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206549
- GRCh38:
- Chr11:19185002
| CSRP3 | S153I, V97F | Cardiovascular phenotype | Uncertain significance (Jul 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206549-19206550
- GRCh38:
- Chr11:19185002-19185003
| CSRP3 | R96fs, L154fs | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiomyopathy, Cardiovascular phenotype | Uncertain significance (Aug 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206551
- GRCh38:
- Chr11:19185004
| CSRP3 | R96K | not specified, Cardiovascular phenotype | Likely benign (Apr 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206552
- GRCh38:
- Chr11:19185005
| CSRP3 | K152R, R96G | Cardiovascular phenotype | Uncertain significance (Jul 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206555
- GRCh38:
- Chr11:19185008
| CSRP3 | G151E, G95R | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206558
- GRCh38:
- Chr11:19185011
| CSRP3 | C150Y, V94M | Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, not specified, Primary familial hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity (Oct 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:19206562
- GRCh38:
- Chr11:19185015
| CSRP3 | I149F | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Uncertain significance (Oct 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206564
- GRCh38:
- Chr11:19185017
| CSRP3 | P92S, A148V | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M | Uncertain significance (Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206568
- GRCh38:
- Chr11:19185021
| CSRP3 | C147R | Cardiovascular phenotype, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
| Uncertain significance (Jul 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206570
- GRCh38:
- Chr11:19185023
| CSRP3 | A90S, R146L | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 | Uncertain significance (Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206570
- GRCh38:
- Chr11:19185023
| CSRP3 | R146H, A90T | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, not specified, Cardiomyopathy, Prolonged QT interval | Uncertain significance (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206571
- GRCh38:
- Chr11:19185024
| CSRP3 | R146C | Cardiovascular phenotype, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiomyopathy, Hypertrophic cardiomyopathy, not provided
| Uncertain significance (Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206573
- GRCh38:
- Chr11:19185026
| CSRP3 | F145C, S89A | Hypertrophic cardiomyopathy | Likely pathogenic (Jul 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206576
- GRCh38:
- Chr11:19185029
| CSRP3 | C144Y, V88I | not provided | Uncertain significance (Jul 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19206583
- GRCh38:
- Chr11:19185036
| CSRP3 | K142E | not provided, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiovascular phenotype | Uncertain significance (Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:19206587
- GRCh38:
- Chr11:19185040
| CSRP3 | W140C, G84A | Primary dilated cardiomyopathy | Pathogenic (Sep 23, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr11:19206593
- GRCh38:
- Chr11:19185046
| CSRP3 | | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, not provided, Cardiovascular phenotype | Uncertain significance (Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |