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Items: 1 to 100 of 667

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:22765628-38837526
GRCh38:
Chr15:23319714-38545325
ACTC1, APBA2, AQR, ARHGAP11B-DT, ARHGAP11A, ARHGAP11A-DT, ARHGAP11A-SCG5, ARHGAP11B, ATP10A, ATP10A-DT, AVEN, CDIN1, CHRFAM7A, CHRM5, CHRNA7, DPH6, DPH6-DT, EMC4, EMC7, ENTREP2, FAM98B, FAN1, FMN1, GABRA5, GABRB3, GABRG3, GABRG3-AS1, GJD2, GJD2-DT, GOLGA6L2, GOLGA6L24, GOLGA6L25, GOLGA6L26, GOLGA6L7, GOLGA8A, GOLGA8B, GOLGA8F, GOLGA8G, GOLGA8H, GOLGA8J, GOLGA8K, GOLGA8M, GOLGA8N, GOLGA8O, GOLGA8Q, GOLGA8R, GOLGA8S, GOLGA8T, GREM1, GREM1-AS1, HERC2, IPW, KATNBL1, KLF13, LCIIAR, LINC00929, LINC01852, LINC02249, LINC02250, LINC02252, LINC02256, LINC02345, LINC02346, LINC02352, LINC02853, LINC03034, LOC105370764, LOC106736464, LOC106736465, LOC106736468, LOC106736469, LOC106736476, LOC106736477, LOC106736480, LOC106736481, LOC106783506, LOC108004527, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC110121498, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC112272582, LOC112272583, LOC113939943, LOC121530575, LOC121530576, LOC121847940, LOC121847941, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC125078051, LOC125078052, LOC125078053, LOC125078054, LOC125078055, LOC125078056, LOC125078057, LOC125078058, LOC125078059, LOC126862075, LOC126862076, LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC126862085, LOC126862086, LOC126862087, LOC126862088, LOC126862089, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC126862105, LOC127829159, LOC128772394, LOC128899998, LOC128899999, LOC145845, LPCAT4, MAGEL2, MEIS2, MIR1233-1, MIR1233-2, MIR211, MIR3942, MIR4508, MIR4509-2, MIR4509-3, MIR4510, MIR4715, MIR8063, MKRN3, MTMR10, NANOGP8, OCA2, NDN, NOP10, NPAP1, NSMCE3, NUTM1, OTUD7A, PGBD4, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, RASGRP1, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD64, SNRPN, SNURF, SPRED1, TJP1, TMCO5A, TRE-TTC2-2, TRPM1, UBE3A, ZNF770
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
2.
GRCh37:
Chr15:22698522-38381783
GRCh38:
Chr15:23319714-38089582
LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC126862085, LOC126862086, LOC126862087, LOC126862088, LOC126862089, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC126862105, LOC127829159, LOC128772394, LOC128899998, LOC128899999, LOC145845, LPCAT4, MAGEL2, MEIS2, MIR1233-1, MIR1233-2, MIR211, MIR3942, MIR4508, MIR4509-2, MIR4509-3, MIR4510, MIR4715, MIR8063, MKRN3, MTMR10, NANOGP8, NDN, NOP10, NPAP1, NSMCE3, NUTM1, OCA2, OTUD7A, PGBD4, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD64, SNRPN, SNURF, TJP1, TMCO5A, TRE-TTC2-2, TRPM1, UBE3A, ZNF770, ACTC1, APBA2, AQR, ARHGAP11A, ARHGAP11A-DT, ARHGAP11A-SCG5, ARHGAP11B, ARHGAP11B-DT, ATP10A, ATP10A-DT, AVEN, CDIN1, CHRFAM7A, CHRM5, CHRNA7, DPH6, DPH6-DT, EMC4, EMC7, ENTREP2, FAN1, FMN1, GABRA5, GABRB3, GABRG3, GABRG3-AS1, GJD2, GJD2-DT, GOLGA6L2, GOLGA6L24, GOLGA6L25, GOLGA6L26, GOLGA6L7, GOLGA8A, GOLGA8B, GOLGA8F, GOLGA8G, GOLGA8H, GOLGA8J, GOLGA8K, GOLGA8M, GOLGA8N, GOLGA8O, GOLGA8Q, GOLGA8R, GOLGA8S, GOLGA8T, GREM1, GREM1-AS1, HERC2, IPW, KATNBL1, KLF13, LCIIAR, LINC00929, LINC01852, LINC02249, LINC02250, LINC02252, LINC02256, LINC02345, LINC02346, LINC02352, LINC02853, LINC03034, LOC105370764, LOC106736464, LOC106736465, LOC106736468, LOC106736469, LOC106736476, LOC106736477, LOC106736480, LOC106736481, LOC106783506, LOC108004527, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC110121498, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC112272582, LOC112272583, LOC113939943, LOC121530575, LOC121530576, LOC121847940, LOC121847941, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC125078051, LOC125078052, LOC125078053, LOC125078054, LOC125078055, LOC125078056, LOC125078057, LOC125078058, LOC126862075, LOC126862076
See casesPathogenic
(Nov 30, 2009)
no assertion criteria provided
3.
GRCh37:
Chr15:25279016-37496505
GRCh38:
Chr15:25033869-37204304
GOLGA6L25, GOLGA6L7, GOLGA8A, GOLGA8B, GOLGA8F, GOLGA8G, GOLGA8H, GOLGA8J, GOLGA8K, GOLGA8M, GOLGA8N, GOLGA8O, GOLGA8Q, GOLGA8R, GOLGA8T, GREM1, GREM1-AS1, HERC2, IPW, KATNBL1, KLF13, LCIIAR, LINC00929, LINC02249, LINC02250, LINC02252, LINC02256, LINC02346, LINC02352, LINC02853, LINC03034, LOC105370764, LOC106736464, LOC106736465, LOC106736468, LOC106736469, LOC106736476, LOC106736477, LOC106736480, LOC106736481, LOC106783506, LOC108004527, LOC110120842, LOC110120858, LOC110120936, LOC110121498, LOC112272580, LOC112272581, LOC112272582, LOC112272583, LOC113939943, LOC121530575, LOC121530576, LOC121847941, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC125078051, LOC125078052, LOC125078053, LOC125078054, LOC125078055, LOC125078056, LOC125078057, LOC126862076, LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC126862085, LOC126862086, LOC126862087, LOC126862088, LOC126862089, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC127829159, LOC128772394, LOC128899998, LOC128899999, LOC145845, LPCAT4, MEIS2, MIR1233-1, MIR1233-2, MIR211, MIR3942, MIR4509-2, MIR4509-3, MIR4510, MIR4715, MIR8063, MTMR10, NANOGP8, NOP10, NSMCE3, NUTM1, OCA2, OTUD7A, PGBD4, PWAR1, PWAR4, PWAR6, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, SNHG14, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, TJP1, TRE-TTC2-2, TRPM1, UBE3A, ZNF770, ACTC1, APBA2, AQR, ARHGAP11A, ARHGAP11A-DT, ARHGAP11A-SCG5, ARHGAP11B, ARHGAP11B-DT, ATP10A, ATP10A-DT, AVEN, CDIN1, CHRFAM7A, CHRM5, CHRNA7, DPH6, DPH6-DT, EMC4, EMC7, ENTREP2, FAN1, FMN1, GABRA5, GABRB3, GABRG3, GABRG3-AS1, GJD2, GJD2-DT, GOLGA6L24
See casesPathogenic
(Jan 28, 2013)
no assertion criteria provided
4.
GRCh37:
Chr15:32618337-39686269
GRCh38:
Chr15:32326136-39394068
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr15:32899499-35492630
GRCh38:
Chr15:32607298-35200429
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr15:32928004-40526026
GRCh38:
Chr15:32635803-40233825
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr15:34880216-39572605
GRCh38:
Chr15:34588015-39280404
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr15:35080321
GRCh38:
Chr15:34788120
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr15:35080338
GRCh38:
Chr15:34788137
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr15:35080352
GRCh38:
Chr15:34788151
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr15:35080407
GRCh38:
Chr15:34788206
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr15:35080425
GRCh38:
Chr15:34788224
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr15:35080434
GRCh38:
Chr15:34788233
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr15:35080445
GRCh38:
Chr15:34788244
ACTC1, GJD2-DTFamilial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Atrial septal defect, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr15:35080523
GRCh38:
Chr15:34788322
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RBenign
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr15:35080560
GRCh38:
Chr15:34788359
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Likely benign
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr15:35080626
GRCh38:
Chr15:34788425
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr15:35080694
GRCh38:
Chr15:34788493
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr15:35080720
GRCh38:
Chr15:34788519
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr15:35080803
GRCh38:
Chr15:34788602
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr15:35080811
GRCh38:
Chr15:34788610
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr15:35080813
GRCh38:
Chr15:34788612
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr15:35080816
GRCh38:
Chr15:34788615
GJD2-DT, ACTC1Familial restrictive cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr15:35080832
GRCh38:
Chr15:34788631
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr15:35080839
GRCh38:
Chr15:34788638
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr15:35080860
GRCh38:
Chr15:34788659
ACTC1, GJD2-DTFamilial restrictive cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr15:35080864
GRCh38:
Chr15:34788663
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr15:35080881
GRCh38:
Chr15:34788680
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, not provided
Conflicting interpretations of pathogenicity
(Jul 1, 2023)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr15:35080931
GRCh38:
Chr15:34788730
GJD2-DT, ACTC1not provided, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Benign
(Jun 14, 2019)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr15:35080939
GRCh38:
Chr15:34788738
ACTC1, GJD2-DTnot provided, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Benign/Likely benign
(Jun 15, 2019)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr15:35080989
GRCh38:
Chr15:34788788
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr15:35081100
GRCh38:
Chr15:34788899
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RLikely benign
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr15:35081111
GRCh38:
Chr15:34788910
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr15:35081131
GRCh38:
Chr15:34788930
ACTC1, GJD2-DTFamilial restrictive cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr15:35081142
GRCh38:
Chr15:34788941
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr15:35081168
GRCh38:
Chr15:34788967
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RBenign
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr15:35081235
GRCh38:
Chr15:34789034
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr15:35081295
GRCh38:
Chr15:34789094
GJD2-DT, ACTC1Familial restrictive cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr15:35081310
GRCh38:
Chr15:34789109
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr15:35081351
GRCh38:
Chr15:34789150
ACTC1, GJD2-DTDilated cardiomyopathy 1R, not provided, Hypertrophic cardiomyopathy 11
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr15:35081383
GRCh38:
Chr15:34789182
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr15:35081392
GRCh38:
Chr15:34789191
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr15:35081394
GRCh38:
Chr15:34789193
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, not provided, Dilated cardiomyopathy 1R
Conflicting interpretations of pathogenicity
(Jul 1, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr15:35081480
GRCh38:
Chr15:34789279
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr15:35081498
GRCh38:
Chr15:34789297
ACTC1, GJD2-DTFamilial restrictive cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr15:35081523
GRCh38:
Chr15:34789322
ACTC1, GJD2-DTFamilial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Atrial septal defect, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr15:35081543
GRCh38:
Chr15:34789342
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr15:35081551
GRCh38:
Chr15:34789350
ACTC1, GJD2-DTFamilial restrictive cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr15:35081574
GRCh38:
Chr15:34789373
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RBenign
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr15:35081609
GRCh38:
Chr15:34789408
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RLikely benign
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr15:35081630
GRCh38:
Chr15:34789429
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr15:35081678
GRCh38:
Chr15:34789477
ACTC1, GJD2-DTFamilial restrictive cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr15:35081686
GRCh38:
Chr15:34789485
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr15:35081695
GRCh38:
Chr15:34789494
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr15:35081738
GRCh38:
Chr15:34789537
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RBenign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr15:35081745
GRCh38:
Chr15:34789544
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RLikely benign
(Feb 22, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr15:35081748
GRCh38:
Chr15:34789547
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr15:35081757
GRCh38:
Chr15:34789556
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Likely benign
(Jan 12, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr15:35081767
GRCh38:
Chr15:34789566
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RLikely benign
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr15:35081832
GRCh38:
Chr15:34789631
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Likely benign
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr15:35081836
GRCh38:
Chr15:34789635
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr15:35081838
GRCh38:
Chr15:34789637
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr15:35081856
GRCh38:
Chr15:34789655
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, not provided, Dilated cardiomyopathy 1R
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr15:35081857
GRCh38:
Chr15:34789656
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr15:35081861
GRCh38:
Chr15:34789660
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr15:35081871
GRCh38:
Chr15:34789670
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr15:35081874
GRCh38:
Chr15:34789673
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr15:35081876
GRCh38:
Chr15:34789675
ACTC1, GJD2-DTnot provided, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr15:35081905
GRCh38:
Chr15:34789704
ACTC1, GJD2-DTFamilial restrictive cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr15:35081925
GRCh38:
Chr15:34789724
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Likely benign
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr15:35081934
GRCh38:
Chr15:34789733
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr15:35081939
GRCh38:
Chr15:34789738
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr15:35081967
GRCh38:
Chr15:34789766
ACTC1, GJD2-DTFamilial restrictive cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr15:35081970
GRCh38:
Chr15:34789769
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr15:35081994
GRCh38:
Chr15:34789793
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr15:35082023
GRCh38:
Chr15:34789822
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr15:35082029
GRCh38:
Chr15:34789828
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr15:35082052
GRCh38:
Chr15:34789851
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr15:35082095
GRCh38:
Chr15:34789894
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RLikely benign
(Jan 12, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr15:35082129
GRCh38:
Chr15:34789928
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr15:35082141
GRCh38:
Chr15:34789940
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RBenign
(Jan 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr15:35082191
GRCh38:
Chr15:34789990
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr15:35082220
GRCh38:
Chr15:34790019
ACTC1, GJD2-DTnot provided, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr15:35082225
GRCh38:
Chr15:34790024
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Dilated cardiomyopathy 1R, Atrial septal defect 5,
Hypertrophic cardiomyopathy 11, Hypertrophic cardiomyopathy 11
Uncertain significance
(Sep 28, 2021)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr15:35082225
GRCh38:
Chr15:34790024
ACTC1, GJD2-DTnot provided, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr15:35082306
GRCh38:
Chr15:34790105
ACTC1, GJD2-DTFamilial restrictive cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr15:35082312
GRCh38:
Chr15:34790111
GJD2-DT, ACTC1not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
88.
GRCh37:
Chr15:35082329
GRCh38:
Chr15:34790128
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy,
Atrial septal defect, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr15:35082344
GRCh38:
Chr15:34790143
ACTC1, GJD2-DTnot provided, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Benign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr15:35082366
GRCh38:
Chr15:34790165
ACTC1, GJD2-DTFamilial restrictive cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr15:35082389
GRCh38:
Chr15:34790188
ACTC1, GJD2-DTnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
92.
GRCh37:
Chr15:35082389
GRCh38:
Chr15:34790188
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr15:35082399
GRCh38:
Chr15:34790198
ACTC1, GJD2-DTDilated cardiomyopathy 1R, not provided, Hypertrophic cardiomyopathy 11
Conflicting interpretations of pathogenicity
(May 1, 2023)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr15:35082476
GRCh38:
Chr15:34790275
ACTC1, GJD2-DTnot provided, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Benign/Likely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr15:35082497
GRCh38:
Chr15:34790296
ACTC1, GJD2-DTnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr15:35082573
GRCh38:
Chr15:34790372
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr15:35082574
GRCh38:
Chr15:34790373
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R,
Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Uncertain significance
(Sep 7, 2021)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr15:35082578
GRCh38:
Chr15:34790377
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr15:35082591
GRCh38:
Chr15:34790390
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, not provided
Benign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr15:35082593
GRCh38:
Chr15:34790392
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
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