| - GRCh37:
- Chr1:59285277-86564294
- GRCh38:
- Chr1:58819605-86098611
| LOC129930848, LOC129930849, LOC129930850, LOC129930851, LOC129930852, LOC129930853, LOC129930854, LOC129930855, LOC129930856, LOC129930857, LOC129930858, LOC129930859, LOC129930860, LOC129930861, LOC129930862, LOC129930863, LOC129930864, LOC129930865, LOC129930866, LOC129930867, LOC129930868, LOC129930869, LOC129930870, LOC129930871, LOC129930872, LOC129930873, LOC129930874, LOC129930875, LOC129930876, LOC129930877, LOC129930878, LOC129930879, LOC129930880, LOC129930881, LOC132088736, LOC132088737, LOC132088738, LOC132088739, LOC132088740, LOC132088741, LOC132088742, LOC132090664, LPAR3, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MCOLN2, MCOLN3, MGC27382, MIER1, MIGA1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4423, MIR4711, MIR4794, MIR6068, MIR7156, MSH4, NEGR1, NEGR1-IT1, NEXN, NEXN-AS1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, RPF1, SAMD13, SERBP1, SGIP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TM2D1, TNNI3K, TTLL7, TTLL7-IT1, TYW3, UBE2U, USP1, USP33, WLS, ZNHIT6, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZZZ3, ACADM, ADGRL2, ADGRL4, AK4, AK5, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ASB17, ATG4C, BCL10, BCL10-AS1, C1orf141, C1orf52, C1orf87, CACHD1, CCN1, COL24A1, CRYZ, CTBS, CTH, CYP2J2, DDAH1, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI3, DNAI4, DNAJB4, DNAJC6, DNASE2B, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, ERICH3, ERICH3-AS1, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG12-AS1, GNG5, HOOK1, HSD52, IFI44, IFI44L, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN-DT, KANK4, L1TD1, LEPR, LEPROT, LHX8, LHX8-AS1, LINC00466, LINC01358, LINC01359, LINC01360, LINC01361, LINC01362, LINC01461, LINC01555, LINC01707, LINC01712, LINC01725, LINC01739, LINC01748, LINC01758, LINC01781, LINC01788, LINC02238, LINC02567, LINC02777, LINC02791, LINC02796, LINC03102, LOC101926944, LOC101926964, LOC101927342, LOC101927434, LOC101927560, LOC105378798, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120683, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121238, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893140, LOC120893141, LOC120893142, LOC120893143, LOC120893144, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC121725034, LOC121725035, LOC121725036, LOC121725037, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094852, LOC122094853, LOC122094854, LOC122094855, LOC122094856, LOC122094857, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC126805763, LOC126805764, LOC126805765, LOC126805766, LOC126805767, LOC126805768, LOC126805769, LOC126805770, LOC126805771, LOC126805772, LOC126805773, LOC126805774, LOC128772198, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129388553, LOC129388554, LOC129388555, LOC129388556, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, LOC129930781, LOC129930782, LOC129930783, LOC129930784, LOC129930785, LOC129930786, LOC129930787, LOC129930788, LOC129930789, LOC129930790, LOC129930791, LOC129930792, LOC129930793, LOC129930794, LOC129930795, LOC129930796, LOC129930797, LOC129930798, LOC129930799, LOC129930800, LOC129930801, LOC129930802, LOC129930803, LOC129930804, LOC129930805, LOC129930806, LOC129930807, LOC129930808, LOC129930809, LOC129930810, LOC129930811, LOC129930812, LOC129930813, LOC129930814, LOC129930815, LOC129930816, LOC129930817, LOC129930818, LOC129930819, LOC129930820, LOC129930821, LOC129930822, LOC129930823, LOC129930824, LOC129930825, LOC129930826, LOC129930827, LOC129930828, LOC129930829, LOC129930830, LOC129930831, LOC129930832, LOC129930833, LOC129930834, LOC129930835, LOC129930836, LOC129930837, LOC129930838, LOC129930839, LOC129930840, LOC129930841, LOC129930842, LOC129930843, LOC129930844, LOC129930845, LOC129930846, LOC129930847 | | See cases | Pathogenic
(Dec 22, 2010) | no assertion criteria provided |
| - GRCh38:
- Chr1:66885559-77949895
| ACADM, AK5, ANKRD13C, ANKRD13C-DT, ASB17, C1orf141, CRYZ, CTH, DEPDC1, DEPDC1-AS1, DIRAS3, DNAI4, ERICH3, ERICH3-AS1, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GNG12, GNG12-AS1, IL12RB2, IL23R, LHX8, LHX8-AS1, LINC01360, LINC01707, LINC01758, LINC01788, LINC02238, LINC02567, LINC02791, LINC02796, LINC03102, LOC101927342, LOC105378798, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893141, LOC120893142, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094852, LOC122094853, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC126805763, LOC126805764, LOC126805765, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129388553, LOC129388554, LOC129388555, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, LOC129930781, LOC129930782, LOC129930783, LOC129930784, LOC129930785, LOC129930786, LOC129930787, LOC129930788, LOC129930789, LOC129930790, LOC129930791, LOC129930792, LOC129930793, LOC129930794, LOC129930795, LOC129930796, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MIER1, MIGA1, MIR1262, MIR186, MIR7156, MSH4, NEGR1, NEGR1-IT1, NEXN, NEXN-AS1, PIGK, PTGER3, RABGGTB, RPE65, SERBP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, ST6GALNAC3, ST6GALNAC5, TNNI3K, TYW3, USP33, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZZZ3 | | not specified | Uncertain significance
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:76884987-89094147
- GRCh38:
- Chr1:76419302-88628464
| ADGRL2, ADGRL4, AK5, BCL10, BCL10-AS1, C1orf52, CCN1, CLCA1, CLCA2, CLCA4, CLCA4-AS1, COL24A1, CTBS, DDAH1, DNAI3, DNAJB4, DNASE2B, FUBP1, GIPC2, GNG5, HS2ST1, IFI44, IFI44L, LINC01140, LINC01361, LINC01362, LINC01364, LINC01461, LINC01555, LINC01712, LINC01725, LINC01781, LINC02567, LINC02795, LINC02801, LMO4, LOC101927434, LOC101927560, LOC110120602, LOC110120664, LOC110120683, LOC110120776, LOC110120795, LOC110120959, LOC110120990, LOC110121010, LOC110121023, LOC110121031, LOC110121238, LOC120893142, LOC120893143, LOC120893144, LOC121725033, LOC121725034, LOC121725035, LOC121725036, LOC121725037, LOC122094852, LOC122094854, LOC122094855, LOC122094856, LOC122094857, LOC122094858, LOC122094859, LOC126805762, LOC126805763, LOC126805764, LOC126805765, LOC126805766, LOC126805767, LOC126805768, LOC126805769, LOC126805770, LOC126805771, LOC126805772, LOC126805773, LOC126805774, LOC126805775, LOC126805776, LOC126805777, LOC126805778, LOC126805779, LOC126805780, LOC129388553, LOC129388554, LOC129388555, LOC129388556, LOC129388557, LOC129930782, LOC129930783, LOC129930784, LOC129930785, LOC129930786, LOC129930787, LOC129930788, LOC129930789, LOC129930790, LOC129930791, LOC129930792, LOC129930793, LOC129930794, LOC129930795, LOC129930796, LOC129930797, LOC129930798, LOC129930799, LOC129930800, LOC129930801, LOC129930802, LOC129930803, LOC129930804, LOC129930805, LOC129930806, LOC129930807, LOC129930808, LOC129930809, LOC129930810, LOC129930811, LOC129930812, LOC129930813, LOC129930814, LOC129930815, LOC129930816, LOC129930817, LOC129930818, LOC129930819, LOC129930820, LOC129930821, LOC129930822, LOC129930823, LOC129930824, LOC129930825, LOC129930826, LOC129930827, LOC129930828, LOC129930829, LOC129930830, LOC129930831, LOC129930832, LOC129930833, LOC129930834, LOC129930835, LOC129930836, LOC129930837, LOC129930838, LOC129930839, LOC129930840, LOC129930841, LOC129930842, LOC129930843, LOC129930844, LOC129930845, LOC129930846, LOC129930847, LOC129930848, LOC129930849, LOC129930850, LOC129930851, LOC129930852, LOC129930853, LOC129930854, LOC129930855, LOC129930856, LOC129930857, LOC129930858, LOC129930859, LOC129930860, LOC129930861, LOC129930862, LOC129930863, LOC129930864, LOC129930865, LOC129930866, LOC129930867, LOC129930868, LOC129930869, LOC129930870, LOC129930871, LOC129930872, LOC129930873, LOC129930874, LOC129930875, LOC129930876, LOC129930877, LOC129930878, LOC129930879, LOC129930880, LOC129930881, LOC129930882, LOC129930883, LOC129930884, LOC129930885, LOC129930886, LOC129930887, LOC129930888, LOC129930889, LOC129930890, LOC129930891, LOC129930892, LOC129930893, LOC129930894, LOC129930895, LOC129930896, LOC129930897, LOC132088736, LOC132088737, LOC132088738, LOC132088739, LOC132088740, LOC132088741, LOC132088742, LOC132088743, LOC132088745, LOC132090665, LPAR3, MCOLN2, MCOLN3, MGC27382, MIGA1, MIR4423, MIR7156, MIR7856, NEXN, NEXN-AS1, ODF2L, PIGK, PKN2-AS1, PRKACB, PTGFR, RPF1, SAMD13, SELENOF, SH3GLB1, SPATA1, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TTLL7, TTLL7-IT1, USP33, ZNHIT6, ZZZ3 | | See cases | Pathogenic
(Oct 10, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:78243506-79588171
- GRCh38:
- Chr1:77777821-79122486
| ADGRL4, DNAJB4, FUBP1, GIPC2, IFI44, IFI44L, LOC110121238, LOC126805765, LOC126805766, LOC126805767, LOC129930794, LOC129930795, LOC129930796, LOC129930797, LOC129930798, LOC129930799, LOC129930800, LOC129930801, LOC129930802, LOC129930803, LOC129930804, LOC129930805, LOC129930806, LOC129930807, LOC129930808, LOC129930809, LOC129930810, LOC129930811, LOC129930812, LOC129930813, MGC27382, MIGA1, NEXN, NEXN-AS1, PTGFR | | See cases | Uncertain significance
(Jan 28, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:78354283-78354284
- GRCh38:
- Chr1:77888598-77888599
| LOC129930795, NEXN, NEXN-AS1 | | Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78354439
- GRCh38:
- Chr1:77888754
| NEXN-AS1, NEXN | | not specified | Benign
(Feb 24, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78354480
- GRCh38:
- Chr1:77888795
| NEXN, NEXN-AS1 | | not provided | Likely benign
(Jan 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78354585
- GRCh38:
- Chr1:77888900
| LOC129930796, NEXN, NEXN-AS1 | | not provided | Benign
(Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78381724
- GRCh38:
- Chr1:77916039
| NEXN | | not specified | Benign
(Sep 17, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78381730
- GRCh38:
- Chr1:77916045
| NEXN | | not provided | Likely benign
(Jun 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78381749
- GRCh38:
- Chr1:77916064
| NEXN | | not specified | Likely benign
(Nov 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78381758
- GRCh38:
- Chr1:77916073
| NEXN | | not specified | Benign
(Jun 23, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78381782
- GRCh38:
- Chr1:77916097
| NEXN | | not specified | Uncertain significance
(Jul 24, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78381791
- GRCh38:
- Chr1:77916106
| NEXN | | Cardiovascular phenotype | Uncertain significance
(Jul 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78381792
- GRCh38:
- Chr1:77916107
| NEXN | M1L | Cardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
| Uncertain significance
(Jun 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78381796-78381798
- GRCh38:
- Chr1:77916111-77916113
| NEXN | D3del | Cardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
| Uncertain significance
(Nov 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78381799
- GRCh38:
- Chr1:77916114
| NEXN | D3V | Cardiovascular phenotype | Uncertain significance
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78381815-78381819
- GRCh38:
- Chr1:77916130-77916134
| NEXN | | Cardiovascular phenotype | Uncertain significance
(Jun 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78381818
- GRCh38:
- Chr1:77916133
| NEXN | | Cardiovascular phenotype | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78381825
- GRCh38:
- Chr1:77916140
| NEXN | | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC | Likely benign
(May 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78382018
- GRCh38:
- Chr1:77916333
| NEXN | | not provided | Benign
(Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78382038
- GRCh38:
- Chr1:77916353
| NEXN | | not provided | Benign
(Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383161
- GRCh38:
- Chr1:77917476
| NEXN | | not provided | Benign
(Sep 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383239
- GRCh38:
- Chr1:77917554
| NEXN | | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Likely benign
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383242
- GRCh38:
- Chr1:77917557
| NEXN | | not provided | Likely benign
(Nov 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383252
- GRCh38:
- Chr1:77917567
| NEXN | I10S | Cardiovascular phenotype | Uncertain significance
(May 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383255
- GRCh38:
- Chr1:77917570
| NEXN | L11P | Cardiovascular phenotype | Uncertain significance
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383268
- GRCh38:
- Chr1:77917583
| NEXN | | Cardiovascular phenotype | Likely benign
(Aug 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383269
- GRCh38:
- Chr1:77917584
| NEXN | K16E | Cardiovascular phenotype | Uncertain significance
(Oct 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383270
- GRCh38:
- Chr1:77917585
| NEXN | K16T | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383273
- GRCh38:
- Chr1:77917588
| NEXN | P17R | Cardiovascular phenotype | Uncertain significance
(Dec 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383275
- GRCh38:
- Chr1:77917590
| NEXN | V18I | Cardiomyopathy | Uncertain significance
(May 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383278
- GRCh38:
- Chr1:77917593
| NEXN | P19S | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383283
- GRCh38:
- Chr1:77917598
| NEXN | K20N | Cardiomyopathy | Uncertain significance
(Nov 27, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383285
- GRCh38:
- Chr1:77917600
| NEXN | T21I | not provided | Uncertain significance
(Jul 9, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383287
- GRCh38:
- Chr1:77917602
| NEXN | Y22N | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, not provided
| Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383288
- GRCh38:
- Chr1:77917603
| NEXN | Y22C | not specified | Uncertain significance
(Dec 2, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383289
- GRCh38:
- Chr1:77917604
| NEXN | | Cardiovascular phenotype, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
| Likely benign
(Feb 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383290
- GRCh38:
- Chr1:77917605
| NEXN | V23I | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:78383293
- GRCh38:
- Chr1:77917608
| NEXN | P24A | Cardiovascular phenotype | Uncertain significance
(Mar 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383294
- GRCh38:
- Chr1:77917609
| NEXN | P24L | Inborn genetic diseases | Uncertain significance
(Apr 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383301
- GRCh38:
- Chr1:77917616
| NEXN | | Cardiovascular phenotype, not provided, Cardiomyopathy,
Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Benign/Likely benign
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383303
- GRCh38:
- Chr1:77917618
| NEXN | G27V | Cardiovascular phenotype | Uncertain significance
(Sep 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383309
- GRCh38:
- Chr1:77917624
| NEXN | G29V | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, not specified
| Uncertain significance
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383321
- GRCh38:
- Chr1:77917636
| NEXN | D33G | Cardiovascular phenotype | Uncertain significance
(Jan 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383326
- GRCh38:
- Chr1:77917641
| NEXN | F35V | Cardiovascular phenotype | Uncertain significance
(Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383327
- GRCh38:
- Chr1:77917642
| NEXN | F35S | Inborn genetic diseases | Uncertain significance
(Apr 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383329
- GRCh38:
- Chr1:77917644
| NEXN | E36K | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC | Uncertain significance
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383331
- GRCh38:
- Chr1:77917646
| NEXN | | Cardiovascular phenotype | Likely benign
(Feb 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383335
- GRCh38:
- Chr1:77917650
| NEXN | M38L | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383348
- GRCh38:
- Chr1:77917663
| NEXN | R42K | not provided | Uncertain significance
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383356
- GRCh38:
- Chr1:77917671
| NEXN | | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Likely benign
(Oct 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383357
- GRCh38:
- Chr1:77917672
| NEXN | R45I | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383358
- GRCh38:
- Chr1:77917673
| NEXN | N46fs | not provided, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
| Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383358
- GRCh38:
- Chr1:77917673
| NEXN | | not provided | Likely benign
(Nov 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383363
- GRCh38:
- Chr1:77917678
| NEXN | R48fs | Cardiovascular phenotype | Uncertain significance
(Sep 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383364
- GRCh38:
- Chr1:77917679
| NEXN | | Cardiovascular phenotype | Likely benign
(Feb 23, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383379
- GRCh38:
- Chr1:77917694
| NEXN | D52E | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383379
- GRCh38:
- Chr1:77917694
| NEXN | | Cardiovascular phenotype, not specified, Cardiomyopathy,
Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC | Benign/Likely benign
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383380
- GRCh38:
- Chr1:77917695
| NEXN | E53K | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, not provided,
Cardiovascular phenotype | Uncertain significance
(May 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383387-78383390
- GRCh38:
- Chr1:77917702-77917705
| NEXN | R56fs | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiomyopathy
| Conflicting interpretations of pathogenicity
(Mar 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:78383388-78383390
- GRCh38:
- Chr1:77917703-77917705
| NEXN | R57del | Cardiovascular phenotype, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
| Uncertain significance
(Nov 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383398
- GRCh38:
- Chr1:77917713
| NEXN | E59K | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype
| Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383399
- GRCh38:
- Chr1:77917714
| NEXN | E59G | not provided, Cardiovascular phenotype | Uncertain significance
(Feb 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383401
- GRCh38:
- Chr1:77917716
| NEXN | Q60* | not provided, Dilated cardiomyopathy 1CC | Uncertain significance
(Apr 22, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383408
- GRCh38:
- Chr1:77917723
| NEXN | I62N | NEXN-related condition, not provided, Cardiovascular phenotype
| Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383413
- GRCh38:
- Chr1:77917728
| NEXN | E64Q | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Uncertain significance
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383418
- GRCh38:
- Chr1:77917733
| NEXN | | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Likely benign
(Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383424
- GRCh38:
- Chr1:77917739
| NEXN | W67* | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, not provided,
Cardiomyopathy | Conflicting interpretations of pathogenicity
(Dec 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:78383430
- GRCh38:
- Chr1:77917745
| NEXN | | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Likely benign
(Aug 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383437
- GRCh38:
- Chr1:77917752
| NEXN | Q72K | Cardiovascular phenotype | Uncertain significance
(Jun 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383439
- GRCh38:
- Chr1:77917754
| NEXN | | Cardiomyopathy | Likely benign
(Jun 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383447
- GRCh38:
- Chr1:77917762
| NEXN | | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC | Uncertain significance
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383467
- GRCh38:
- Chr1:77917782
| NEXN | | not provided | Benign
(Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383623-78383626
- GRCh38:
- Chr1:77917938-77917941
| NEXN | | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC | Likely benign
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383627-78383630
- GRCh38:
- Chr1:77917942-77917945
| NEXN | | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Likely benign
(Mar 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383628
- GRCh38:
- Chr1:77917943
| NEXN | | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Likely benign
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383639
- GRCh38:
- Chr1:77917954
| NEXN | | not specified | Likely benign
(Mar 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383645
- GRCh38:
- Chr1:77917960
| NEXN | I74L, I10L | not specified | Uncertain significance
(Jul 24, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383647
- GRCh38:
- Chr1:77917962
| NEXN | | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype
| Likely benign
(Mar 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383652
- GRCh38:
- Chr1:77917967
| NEXN | E12G, E76G | Cardiovascular phenotype | Uncertain significance
(Jul 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383662
- GRCh38:
- Chr1:77917977
| NEXN | | Cardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC,
not specified | Likely benign
(Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383667
- GRCh38:
- Chr1:77917982
| NEXN | D81V, D17V | Cardiovascular phenotype, not specified, Dilated cardiomyopathy 1CC,
Hypertrophic cardiomyopathy 20, not provided | Conflicting interpretations of pathogenicity
(Nov 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:78383669
- GRCh38:
- Chr1:77917984
| NEXN | D18N, D82N | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC | Uncertain significance
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383669
- GRCh38:
- Chr1:77917984
| NEXN | D82H, D18H | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383671
- GRCh38:
- Chr1:77917986
| NEXN | | Cardiovascular phenotype | Likely benign
(Jun 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383672
- GRCh38:
- Chr1:77917987
| NEXN | E83K, E19K | Cardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
| Uncertain significance
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383674
- GRCh38:
- Chr1:77917989
| NEXN | | Cardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC,
not specified, not provided, Cardiomyopathy
| Conflicting interpretations of pathogenicity
(Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:78383674
- GRCh38:
- Chr1:77917989
| NEXN | E83D, E19D | not specified | Uncertain significance
(Nov 5, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383675
- GRCh38:
- Chr1:77917990
| NEXN | E84K, E20K | Cardiovascular phenotype, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20,
not provided | Uncertain significance
(Jan 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383679
- GRCh38:
- Chr1:77917994
| NEXN | D85G, D21G | Cardiovascular phenotype | Uncertain significance
(Mar 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383680
- GRCh38:
- Chr1:77917995
| NEXN | D21E, D85E | Cardiovascular phenotype | Likely benign
(Feb 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383682
- GRCh38:
- Chr1:77917997
| NEXN | V86A, V22A | Cardiomyopathy | Uncertain significance
(Jun 3, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383695
- GRCh38:
- Chr1:77918010
| NEXN, LOC126805765 | | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype
| Likely benign
(Apr 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78383702
- GRCh38:
- Chr1:77918017
| LOC126805765, NEXN | A93P, A29P | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383717
- GRCh38:
- Chr1:77918032
| LOC126805765, NEXN | | not provided | Likely benign
(Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383718
- GRCh38:
- Chr1:77918033
| NEXN, LOC126805765 | L34*, L98* | Cardiovascular phenotype | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383732
- GRCh38:
- Chr1:77918047
| LOC126805765, NEXN | | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 | Likely benign
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383733
- GRCh38:
- Chr1:77918048
| LOC126805765, NEXN | | not specified | Likely benign
(Mar 20, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383789
- GRCh38:
- Chr1:77918104
| LOC126805765, NEXN | | not specified, not provided | Benign/Likely benign
(Dec 1, 2015) | criteria provided, multiple submitters, no conflicts |