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Items: 1 to 100 of 672

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, LOC129390675, LOC129390676, LOC129390677, LOC129390678, LOC129390679, LOC129390680, LOC129390681, LOC129390682, LOC129390683, LOC129390684, LOC129390685, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC130056725, LOC130056726, LOC130056727, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC130056768, LOC130056769, LOC130056770, LOC130056771, LOC130056772, LOC130056773, LOC130056774, LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, LOC130056781, LOC130056782, LOC130056783, LOC130056784, LOC130056785, LOC130056786, LOC130056787, LOC130056788, LOC130056789, LOC130056790, LOC130056791, LOC130056792, LOC130056793, LOC132090298, LOC132090299, LOC132090300, LOC132090301, 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, 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
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, 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, LOC129390675, LOC129390676, LOC129390677, LOC129390678, LOC129390679, LOC129390680, LOC129390681, LOC129390682, LOC129390683, LOC129390684, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC130056725, LOC130056726, LOC130056727, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC130056768, LOC130056769, LOC130056770, LOC130056771, LOC130056772, LOC130056773, LOC130056774, LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, LOC130056781, LOC132090298, LOC132090299, LOC132090300, LOC132090301, 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
See casesPathogenic
(Nov 30, 2009)
no assertion criteria provided
3.
GRCh37:
Chr15:25279016-37496505
GRCh38:
Chr15:25033869-37204304
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, CDIN1, ARHGAP11B, ARHGAP11B-DT, ATP10A, ATP10A-DT, AVEN, CHRFAM7A, CHRM5, CHRNA7, DPH6, DPH6-DT, EMC4, EMC7, ENTREP2, FAN1, FMN1, GABRA5, GABRB3, GABRG3, GABRG3-AS1, GJD2, GJD2-DT, GOLGA6L24, 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, LOC129390675, LOC129390676, LOC129390677, LOC129390678, LOC129390679, LOC129390680, LOC129390681, LOC129390682, LOC129390683, LOC129390684, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC130056725, LOC130056726, LOC130056727, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC130056768, LOC130056769, LOC130056770, LOC130056771, LOC130056772, LOC130056773, LOC130056774, LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, LOC132090298, LOC132090299, LOC132090300, LOC132090301, 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
See casesPathogenic
(Jan 28, 2013)
no assertion criteria provided
4.
GRCh37:
Chr15:32618337-39686269
GRCh38:
Chr15:32326136-39394068
LOC132090301, LOC132090302, LOC145845, LPCAT4, MEIS2, MIR1233-1, MIR1233-2, MIR3942, MIR4510, MIR8063, NANOGP8, NOP10, NUTM1, PGBD4, RASGRP1, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, SPRED1, TMCO5A, ZNF770, ARHGAP11A-DT, ACTC1, AQR, ARHGAP11A, ARHGAP11A-SCG5, AVEN, CDIN1, CHRM5, DPH6, DPH6-DT, EMC4, EMC7, FAM98B, FMN1, GJD2, GJD2-DT, GOLGA8A, GOLGA8B, GOLGA8K, GOLGA8N, GOLGA8O, GREM1, GREM1-AS1, KATNBL1, LINC01852, LINC02252, LINC02256, LINC02345, LINC02694, LINC02853, LINC02915, LOC105370764, LOC105370781, LOC106736469, LOC106736481, LOC108004527, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC112272583, LOC113939943, LOC121530575, LOC121530576, LOC121530577, LOC125078054, LOC125078055, LOC125078056, LOC125078057, LOC125078058, LOC125078059, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC126862105, LOC126862106, LOC126862107, LOC126862108, LOC126862109, LOC129390682, LOC129390683, LOC129390684, LOC129390685, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC130056768, LOC130056769, LOC130056770, LOC130056771, LOC130056772, LOC130056773, LOC130056774, LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, LOC130056781, LOC130056782, LOC130056783, LOC130056784, LOC130056785, LOC130056786, LOC130056787, LOC130056788, LOC130056789, LOC130056790, LOC130056791, LOC130056792, LOC130056793, LOC130056794, LOC130056795, LOC130056796, LOC130056797, LOC130056798, LOC130056799, LOC130056800, LOC130056801, LOC130056802, LOC130056803, LOC130056804, LOC130056805, LOC130056806, LOC132090300
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
ACTC1, AQR, ARHGAP11A, ARHGAP11A-SCG5, AVEN, BMF, BUB1B, BUB1B-PAK6, CDIN1, CHRM5, DPH6, DPH6-DT, EIF2AK4, EMC4, EMC7, FAM98B, FMN1, FSIP1, GJD2, GJD2-DT, GOLGA8A, GOLGA8B, GPR176, GPR176-DT, GREM1, GREM1-AS1, KATNBL1, LINC01852, LINC02252, LINC02345, LINC02694, LINC02853, LINC02915, LOC105370764, LOC105370781, LOC105370783, LOC105370787, LOC105370941, LOC108004527, LOC108353818, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC110121409, LOC112272583, LOC112272584, LOC113939943, LOC121530575, LOC121530576, LOC121530577, LOC125078054, LOC125078055, LOC125078056, LOC125078057, LOC125078058, LOC125078059, LOC125078061, LOC125078062, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC126862105, LOC126862106, LOC126862107, LOC126862108, LOC126862109, LOC126862110, LOC126862111, LOC129390682, LOC129390683, LOC129390684, LOC129390685, LOC129390686, LOC129390687, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC130056768, LOC130056769, LOC130056770, LOC130056771, LOC130056772, LOC130056773, LOC130056774, LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, LOC130056781, LOC130056782, LOC130056783, LOC130056784, LOC130056785, LOC130056786, LOC130056787, LOC130056788, LOC130056789, LOC130056790, LOC130056791, LOC130056792, LOC130056793, LOC130056794, LOC130056795, LOC130056796, LOC130056797, LOC130056798, LOC130056799, LOC130056800, LOC130056801, LOC130056802, LOC130056803, LOC130056804, LOC130056805, LOC130056806, LOC130056807, LOC130056808, LOC130056809, LOC130056810, LOC130056811, LOC130056812, LOC130056813, LOC130056814, LOC130056815, LOC130056816, LOC130056817, LOC130056818, LOC130056819, LOC130056820, LOC130056821, LOC130056822, LOC130056823, LOC130056824, LOC130056825, LOC130056826, LOC130056827, LOC130056828, LOC130056829, LOC130056830, LOC130056831, LOC132090300, LOC132090301, LOC132090302, LOC145845, LPCAT4, MEIS2, MIR1233-1, MIR1233-2, MIR3942, MIR4510, MIR8063, NANOGP8, NOP10, NUTM1, PGBD4, RASGRP1, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, SPRED1, SRP14, SRP14-DT, THBS1, THBS1-IT1, TMCO5A, ZNF770
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-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr15:35080338
GRCh38:
Chr15:34788137
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr15:35080352
GRCh38:
Chr15:34788151
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr15:35080407
GRCh38:
Chr15:34788206
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr15:35080425
GRCh38:
Chr15:34788224
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr15:35080434
GRCh38:
Chr15:34788233
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr15:35080445
GRCh38:
Chr15:34788244
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
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-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RLikely benign
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr15:35080626
GRCh38:
Chr15:34788425
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr15:35080694
GRCh38:
Chr15:34788493
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr15:35080720
GRCh38:
Chr15:34788519
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr15:35080803
GRCh38:
Chr15:34788602
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr15:35080811
GRCh38:
Chr15:34788610
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr15:35080813
GRCh38:
Chr15:34788612
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr15:35080816
GRCh38:
Chr15:34788615
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Hypertrophic cardiomyopathy, Left ventricular noncompaction 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
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr15:35080860
GRCh38:
Chr15:34788659
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
27.
GRCh37:
Chr15:35080864
GRCh38:
Chr15:34788663
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr15:35080881
GRCh38:
Chr15:34788680
ACTC1, GJD2-DTnot provided, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Conflicting interpretations of pathogenicity
(Jul 1, 2023)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr15:35080931
GRCh38:
Chr15:34788730
GJD2-DT, ACTC1not provided, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Benign
(Jun 14, 2019)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr15:35080939
GRCh38:
Chr15:34788738
ACTC1, GJD2-DTnot provided, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Benign/Likely benign
(Jun 15, 2019)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr15:35080989
GRCh38:
Chr15:34788788
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr15:35081100
GRCh38:
Chr15:34788899
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Likely 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-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr15:35081142
GRCh38:
Chr15:34788941
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain 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-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr15:35081295
GRCh38:
Chr15:34789094
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
39.
GRCh37:
Chr15:35081310
GRCh38:
Chr15:34789109
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr15:35081351
GRCh38:
Chr15:34789150
ACTC1, GJD2-DTnot provided, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr15:35081383
GRCh38:
Chr15:34789182
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr15:35081392
GRCh38:
Chr15:34789191
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr15:35081394
GRCh38:
Chr15:34789193
ACTC1, GJD2-DTnot provided, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Conflicting interpretations of pathogenicity
(Jul 1, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr15:35081480
GRCh38:
Chr15:34789279
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr15:35081498
GRCh38:
Chr15:34789297
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
46.
GRCh37:
Chr15:35081523
GRCh38:
Chr15:34789322
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
47.
GRCh37:
Chr15:35081543
GRCh38:
Chr15:34789342
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
48.
GRCh37:
Chr15:35081551
GRCh38:
Chr15:34789350
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
49.
GRCh37:
Chr15:35081574
GRCh38:
Chr15:34789373
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Benign
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr15:35081609
GRCh38:
Chr15:34789408
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Likely 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-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, 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
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr15:35081738
GRCh38:
Chr15:34789537
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Benign/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-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr15:35081757
GRCh38:
Chr15:34789556
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RLikely benign
(Jan 12, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr15:35081767
GRCh38:
Chr15:34789566
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Likely benign
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr15:35081832
GRCh38:
Chr15:34789631
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RLikely benign
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr15:35081836
GRCh38:
Chr15:34789635
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain 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-DTDilated cardiomyopathy 1R, not provided, Hypertrophic cardiomyopathy 11
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr15:35081857
GRCh38:
Chr15:34789656
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr15:35081861
GRCh38:
Chr15:34789660
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr15:35081871
GRCh38:
Chr15:34789670
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain 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, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr15:35081905
GRCh38:
Chr15:34789704
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
70.
GRCh37:
Chr15:35081925
GRCh38:
Chr15:34789724
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RLikely benign
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr15:35081934
GRCh38:
Chr15:34789733
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Uncertain 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
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
74.
GRCh37:
Chr15:35081970
GRCh38:
Chr15:34789769
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Atrial septal defect
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-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr15:35082029
GRCh38:
Chr15:34789828
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain 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
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RLikely benign
(Jan 12, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr15:35082129
GRCh38:
Chr15:34789928
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1RUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr15:35082141
GRCh38:
Chr15:34789940
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11Benign
(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
GJD2-DT, ACTC1not 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, Hypertrophic cardiomyopathy 11, Atrial septal defect 5,
Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Uncertain significance
(Sep 28, 2021)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr15:35082225
GRCh38:
Chr15:34790024
ACTC1, GJD2-DTnot provided, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr15:35082306
GRCh38:
Chr15:34790105
ACTC1, GJD2-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr15:35082312
GRCh38:
Chr15:34790111
ACTC1, GJD2-DTnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
88.
GRCh37:
Chr15:35082329
GRCh38:
Chr15:34790128
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
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-DTDilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, 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
GJD2-DT, ACTC1Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Atrial septal defect
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr15:35082399
GRCh38:
Chr15:34790198
ACTC1, GJD2-DTnot provided, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
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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