| - GRCh37:
- Chr1:53061024-77233450
- GRCh38:
- Chr1:52595352-76767765
| LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129930549, LOC129930550, LOC129930551, LOC129930552, LOC129930553, LOC129930554, LOC129930555, LOC129930556, LOC129930557, LOC129930558, LOC129930559, LOC129930560, LOC129930561, LOC129930562, LOC129930563, LOC129930564, LOC129930565, LOC129930566, LOC129930567, LOC129930568, LOC129930569, LOC129930570, LOC129930571, LOC129930572, LOC129930573, LOC129930574, LOC129930575, LOC129930576, LOC129930577, LOC129930578, LOC129930579, LOC129930580, LOC129930581, LOC129930582, LOC129930583, LOC129930584, LOC129930585, LOC129930586, LOC129930587, LOC129930588, LOC129930589, LOC129930590, LOC129930591, LOC129930592, LOC129930593, LOC129930594, LOC129930595, LOC129930596, LOC129930597, LOC129930598, LOC129930599, LOC129930600, LOC129930601, LOC129930602, LOC129930603, LOC129930604, LOC129930605, LOC129930606, LOC129930607, LOC129930608, LOC129930609, LOC129930610, LOC129930611, LOC129930612, LOC129930613, LOC129930614, LOC129930615, LOC129930616, LOC129930617, LOC129930618, LOC129930619, LOC129930620, LOC129930621, 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, LOC132088728, LOC132088729, LOC132088730, LOC132088731, LOC132088732, LOC132088733, LOC132088734, LOC132088735, LOC132090664, LRP8, LRP8-DT, LRRC40, LRRC42, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MAGOH, MAGOH-DT, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR4794, MIR6068, MROH7, MROH7-TTC4, MRPL37, MSH4, MYSM1, NDC1, NEGR1, NEGR1-IT1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PATJ-DT, PCSK9, PDE4B, PDE4B-AS1, PGM1, PLPP3, PODN, PRKAA2, PTGER3, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, SCP2, SERBP1, SGIP1, SHISAL2A, SLC1A7, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, SSBP3, SSBP3-AS1, ST6GALNAC3, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TNNI3K, TRK-CTT7-1, TTC22, TTC4, TYW3, UBE2U, USP1, USP24, WLS, YIPF1, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZYG11A, ZYG11B, ACADM, ACOT11, AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ASB17, ATG4C, BSND, C1orf141, C1orf87, C8A, C8B, CACHD1, CDCP2, CIMAP2, COA7, CPT2, CRYZ, CTH, CYB5RL, CYP2J2, CZIB, CZIB-DT, DAB1, DAB1-AS1, DEPDC1, DEPDC1-AS1, DHCR24, DIO1, DIRAS3, DLEU2L, DMRTB1, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, ECHDC2, EFCAB7, ERICH3, ERICH3-AS1, FAM151A, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FYB2, GADD45A, GLIS1, GNG12, GNG12-AS1, GPX7, HOOK1, HSD52, IFT25, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, JUN-DT, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LHX8, LHX8-AS1, LINC00466, LINC01358, LINC01359, LINC01360, LINC01707, LINC01739, LINC01748, LINC01753, LINC01755, LINC01758, LINC01767, LINC01788, LINC02238, LINC02567, LINC02777, LINC02784, LINC02791, LINC02796, LINC03102, LOC100507634, LOC101926944, LOC101926964, LOC101927342, LOC101929935, LOC105378798, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590804, LOC112590805, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC114827846, LOC115801429, LOC115801430, LOC120893134, LOC120893135, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC120893141, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC122056873, LOC122056874, LOC122056875, LOC122056876, LOC122056877, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094853, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC128772198, LOC129388524, LOC129388525, LOC129388526, LOC129388527, LOC129388528, LOC129388529, LOC129388530, LOC129388531, LOC129388532, LOC129388533, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53253175-67805556
- GRCh38:
- Chr1:52787503-67339873
| LOC129930559, LOC129930560, LOC129930561, LOC129930562, LOC129930563, LOC129930564, LOC129930565, LOC129930566, LOC129930567, LOC129930568, LOC129930569, LOC129930570, LOC129930571, LOC129930572, LOC129930573, LOC129930574, LOC129930575, LOC129930576, LOC129930577, LOC129930578, LOC129930579, LOC129930580, LOC129930581, LOC129930582, LOC129930583, LOC129930584, LOC129930585, LOC129930586, LOC129930587, LOC129930588, LOC129930589, LOC129930590, LOC129930591, LOC129930592, LOC129930593, LOC129930594, LOC129930595, LOC129930596, LOC129930597, LOC129930598, LOC129930599, LOC129930600, LOC129930601, LOC129930602, LOC129930603, LOC129930604, LOC129930605, LOC129930606, LOC129930607, LOC129930608, LOC129930609, LOC129930610, LOC129930611, LOC129930612, LOC129930613, LOC129930614, LOC129930615, LOC129930616, LOC129930617, LOC129930618, LOC129930619, LOC129930620, LOC129930621, 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, LOC132088728, LOC132088729, LOC132088730, LOC132088731, LOC132088732, LOC132088733, LOC132088734, LOC132088735, LOC132090664, LRP8, LRP8-DT, LRRC42, MAGOH, MAGOH-DT, MIER1, MIR101-1, MIR12132, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR4794, MIR6068, MROH7, MROH7-TTC4, MRPL37, MYSM1, NDC1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PATJ-DT, PCSK9, PDE4B, PDE4B-AS1, PGM1, PLPP3, PODN, PRKAA2, RAVER2, ROR1, ROR1-AS1, SCP2, SGIP1, SLC1A7, SLC35D1, SSBP3, SSBP3-AS1, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TRK-CTT7-1, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1, ZYG11A, ZYG11B, ACOT11, AK4, ALG6, ANGPTL3, ATG4C, BSND, C1orf141, C1orf87, C8A, C8B, CACHD1, CDCP2, CIMAP2, CPT2, CYB5RL, CYP2J2, CZIB, CZIB-DT, DAB1, DAB1-AS1, DHCR24, DIO1, DLEU2L, DMRTB1, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, ECHDC2, EFCAB7, FAM151A, FGGY, FOXD3, FOXD3-AS1, FYB2, GLIS1, HOOK1, HSD52, IFT25, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, JUN-DT, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LINC00466, LINC01358, LINC01359, LINC01739, LINC01748, LINC01753, LINC01755, LINC01767, LINC02777, LINC02784, LOC100507634, LOC101926944, LOC101926964, LOC101929935, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590805, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC114827846, LOC120893134, LOC120893135, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC122056875, LOC122056876, LOC122056877, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC128772198, LOC129388525, LOC129388526, LOC129388527, LOC129388528, LOC129388529, LOC129388530, LOC129388531, LOC129388532, LOC129388533, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129930557, LOC129930558 | | See cases | Likely pathogenic
(May 7, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:54092945-64714537
- GRCh38:
- Chr1:53627272-64248854
| ACOT11, ALG6, ANGPTL3, ATG4C, BSND, C1orf87, C8A, C8B, CDCP2, CIMAP2, CYB5RL, CYP2J2, DAB1, DAB1-AS1, DHCR24, DIO1, DLEU2L, DOCK7, DOCK7-DT, EFCAB7, FAM151A, FGGY, FOXD3, FOXD3-AS1, FYB2, GLIS1, HOOK1, HSD52, IFT25, ITGB3BP, JUN, JUN-DT, KANK4, L1TD1, LDLRAD1, LINC00466, LINC01358, LINC01739, LINC01748, LINC01753, LINC01755, LINC01767, LINC02777, LINC02784, LOC100507634, LOC101926944, LOC101926964, LOC101929935, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC128772198, LOC129388528, LOC129388529, LOC129388530, LOC129388531, LOC129388532, LOC129388533, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129930572, LOC129930573, LOC129930574, LOC129930575, LOC129930576, LOC129930577, LOC129930578, LOC129930579, LOC129930580, LOC129930581, LOC129930582, LOC129930583, LOC129930584, LOC129930585, LOC129930586, LOC129930587, LOC129930588, LOC129930589, LOC129930590, LOC129930591, LOC129930592, LOC129930593, LOC129930594, LOC129930595, LOC129930596, LOC129930597, LOC129930598, LOC129930599, LOC129930600, LOC129930601, LOC129930602, LOC129930603, LOC129930604, LOC129930605, LOC129930606, LOC129930607, LOC129930608, LOC129930609, LOC129930610, LOC129930611, LOC129930612, LOC129930613, LOC129930614, LOC129930615, LOC129930616, LOC129930617, LOC129930618, LOC129930619, LOC129930620, LOC129930621, 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, LOC132088728, LOC132088729, LOC132088730, LOC132088731, LOC132088732, LOC132088733, LOC132088734, LOC132088735, LOC132090664, LRRC42, MIR12132, MIR3116-1, MIR3116-2, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR6068, MROH7, MROH7-TTC4, MRPL37, MYSM1, NDC1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PATJ-DT, PCSK9, PGM1, PLPP3, PRKAA2, ROR1, ROR1-AS1, SSBP3, SSBP3-AS1, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TRK-CTT7-1, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1 | | See cases | Pathogenic
(Jul 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:54203885-61905320
- GRCh38:
- Chr1:53738212-61439648
| ACOT11, BSND, C1orf87, C8A, C8B, CDCP2, CIMAP2, CYB5RL, CYP2J2, DAB1, DAB1-AS1, DHCR24, DIO1, FAM151A, FGGY, FYB2, GLIS1, HOOK1, HSD52, IFT25, JUN, JUN-DT, LDLRAD1, LINC01358, LINC01748, LINC01753, LINC01755, LINC01767, LINC02777, LINC02784, LOC100507634, LOC101926944, LOC101926964, LOC101929935, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC121725023, LOC121725024, LOC121725025, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC129388529, LOC129388530, LOC129388531, LOC129388532, LOC129388533, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129930572, LOC129930573, LOC129930574, LOC129930575, LOC129930576, LOC129930577, LOC129930578, LOC129930579, LOC129930580, LOC129930581, LOC129930582, LOC129930583, LOC129930584, LOC129930585, LOC129930586, LOC129930587, LOC129930588, LOC129930589, LOC129930590, LOC129930591, LOC129930592, LOC129930593, LOC129930594, LOC129930595, LOC129930596, LOC129930597, LOC129930598, LOC129930599, LOC129930600, LOC129930601, LOC129930602, LOC129930603, LOC129930604, LOC129930605, LOC129930606, LOC129930607, LOC129930608, LOC129930609, LOC129930610, LOC129930611, LOC129930612, LOC129930613, LOC129930614, LOC129930615, LOC129930616, LOC129930617, LOC129930618, LOC129930619, LOC129930620, LOC129930621, 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, LOC132088728, LOC132088729, LOC132088730, LOC132088731, LOC132088732, LOC132088733, LOC132088734, LOC132088735, LOC132090664, LRRC42, MIR4422, MIR4422HG, MIR4711, MIR4781, MROH7, MROH7-TTC4, MRPL37, MYSM1, NDC1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PCSK9, PLPP3, PRKAA2, SSBP3, SSBP3-AS1, TACSTD2, TCEANC2, TMEM59, TMEM61, TRK-CTT7-1, TTC22, TTC4, USP24, YIPF1 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464320
- GRCh38:
- Chr1:54998647
| BSND | | not provided | Benign
(Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464412
- GRCh38:
- Chr1:54998739
| BSND | | not provided | Benign
(Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464511
- GRCh38:
- Chr1:54998838
| BSND | | not provided | Benign
(Mar 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464568
- GRCh38:
- Chr1:54998895
| BSND | | not provided | Likely benign
(Jan 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464599
- GRCh38:
- Chr1:54998926
| BSND, LOC129930596 | | not provided | Benign
(Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464619
- GRCh38:
- Chr1:54998946
| LOC129930596, BSND | | not provided, Bartter disease type 4A | Benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464662
- GRCh38:
- Chr1:54998989
| BSND | | not provided | Likely benign
(Apr 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464685
- GRCh38:
- Chr1:54999012
| BSND | | Bartter disease type 4A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464704
- GRCh38:
- Chr1:54999031
| BSND | | Bartter disease type 4A | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464743
- GRCh38:
- Chr1:54999070
| BSND | | not provided, Bartter disease type 4A | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464790
- GRCh38:
- Chr1:54999117
| BSND | | not provided, Bartter disease type 4A | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464815-55464816
- GRCh38:
- Chr1:54999142-54999143
| BSND | | not specified | Uncertain significance
(Jul 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464816
- GRCh38:
- Chr1:54999143
| BSND | | not provided | Likely benign
(Jul 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464826
- GRCh38:
- Chr1:54999153
| BSND | | Bartter disease type 4A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464835
- GRCh38:
- Chr1:54999162
| BSND | | not specified, Bartter disease type 4A | Benign/Likely benign
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464860
- GRCh38:
- Chr1:54999187
| BSND | M1L | not provided, Bartter disease type 4A | Pathogenic
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464862
- GRCh38:
- Chr1:54999189
| BSND | M1I | not provided, Bartter disease type 4A | Pathogenic/Likely pathogenic
(Apr 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464868
- GRCh38:
- Chr1:54999195
| BSND | | not provided, Bartter disease type 4A | Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464869
- GRCh38:
- Chr1:54999196
| BSND | E4K | not provided, not specified, Bartter disease type 4A
| Uncertain significance
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464869
- GRCh38:
- Chr1:54999196
| BSND | E4* | not provided, Bartter disease type 4A, Hearing impairment
| Pathogenic
(Apr 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464875
- GRCh38:
- Chr1:54999202
| BSND | T6A | not provided, Bartter disease type 4A | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55464881
- GRCh38:
- Chr1:54999208
| BSND | R8W | Bartter syndrome, not provided | Pathogenic/Likely pathogenic
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464882
- GRCh38:
- Chr1:54999209
| BSND | R8Q | not provided | Uncertain significance
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464882
- GRCh38:
- Chr1:54999209
| BSND | R8L | Bartter disease type 4A | Pathogenic
(Nov 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr1:55464883
- GRCh38:
- Chr1:54999210
| BSND | | not provided | Likely benign
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464886
- GRCh38:
- Chr1:54999213
| BSND | | not provided | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464887
- GRCh38:
- Chr1:54999214
| BSND | G10S | Bartter syndrome | Pathogenic
(Jun 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464889
- GRCh38:
- Chr1:54999216
| BSND | | not provided | Likely benign
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464894
- GRCh38:
- Chr1:54999221
| BSND | I12T | Bartter syndrome, not provided, Bartter disease type 4A
| Conflicting interpretations of pathogenicity
(Aug 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55464910
- GRCh38:
- Chr1:54999237
| BSND | | not provided | Likely benign
(Jan 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464911
- GRCh38:
- Chr1:54999238
| BSND | L18V | Bartter disease type 4A | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464922
- GRCh38:
- Chr1:54999249
| BSND | | not specified, not provided, Bartter disease type 4A
| Benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464923
- GRCh38:
- Chr1:54999250
| BSND | G22S | Bartter disease type 4A | Uncertain significance
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464923
- GRCh38:
- Chr1:54999250
| BSND | G22R | Bartter disease type 4A | Uncertain significance
(Feb 6, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:55464925
- GRCh38:
- Chr1:54999252
| BSND | | not provided | Likely benign
(Nov 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464928
- GRCh38:
- Chr1:54999255
| BSND | | not provided | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464934
- GRCh38:
- Chr1:54999261
| BSND | | not provided | Likely benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464943
- GRCh38:
- Chr1:54999270
| BSND | | not provided | Likely benign
(Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464948
- GRCh38:
- Chr1:54999275
| BSND | R30Q | not provided | Uncertain significance
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464953
- GRCh38:
- Chr1:54999280
| BSND | Q32* | not provided | Pathogenic
(Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464956
- GRCh38:
- Chr1:54999283
| BSND | V33L | Bartter syndrome, Bartter disease type 4A | Pathogenic/Likely pathogenic
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464961
- GRCh38:
- Chr1:54999288
| BSND | | not specified, not provided, Bartter disease type 4A
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55464962
- GRCh38:
- Chr1:54999289
| BSND | G35R | Inborn genetic diseases | Uncertain significance
(May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464970
- GRCh38:
- Chr1:54999297
| BSND | | not provided | Likely benign
(May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464985
- GRCh38:
- Chr1:54999312
| BSND | | not provided | Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464986
- GRCh38:
- Chr1:54999313
| BSND | V43I | not specified, not provided, Bartter disease type 4A
| Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464994
- GRCh38:
- Chr1:54999321
| BSND | | not provided | Likely benign
(Nov 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464997-55464998
- GRCh38:
- Chr1:54999324-54999325
| BSND | I49fs | not provided | Pathogenic
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464997
- GRCh38:
- Chr1:54999324
| BSND | | not provided | Likely benign
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464998
- GRCh38:
- Chr1:54999325
| BSND | G48fs | not provided | Pathogenic
(Jun 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464998
- GRCh38:
- Chr1:54999325
| BSND | G47R | not provided, Bartter disease type 4A | Pathogenic
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55465000
- GRCh38:
- Chr1:54999327
| BSND | | not provided | Benign
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465016-55465056
- GRCh38:
- Chr1:54999343-54999383
| BSND | | Bartter disease type 4A | Pathogenic
(Nov 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr1:55465021
- GRCh38:
- Chr1:54999348
| BSND | | not provided | Likely benign
(Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465022
- GRCh38:
- Chr1:54999349
| BSND | Q55* | not provided | Pathogenic
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465026-55465027
- GRCh38:
- Chr1:54999353-54999354
| BSND | | not provided | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55465027
- GRCh38:
- Chr1:54999354
| BSND | | not provided | Likely benign
(Nov 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465030
- GRCh38:
- Chr1:54999357
| BSND | K59fs | not provided | Pathogenic
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465030
- GRCh38:
- Chr1:54999357
| BSND | | not provided | Likely benign
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465032
- GRCh38:
- Chr1:54999359
| BSND | P58R | not provided | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465043
- GRCh38:
- Chr1:54999370
| BSND | | not specified, not provided | Likely benign
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55465047
- GRCh38:
- Chr1:54999374
| BSND | | not specified, not provided, Bartter disease type 4A
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55465051
- GRCh38:
- Chr1:54999378
| BSND | | not specified, not provided, Bartter disease type 4A
| Benign/Likely benign
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55465059
- GRCh38:
- Chr1:54999386
| BSND | | not provided | Benign
(Jun 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465191-55465192
- GRCh38:
- Chr1:54999518-54999519
| BSND | | not provided | Benign
(Oct 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465192-55465199
- GRCh38:
- Chr1:54999519-54999526
| BSND | | not provided | Benign
(Sep 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465192-55465195
- GRCh38:
- Chr1:54999519-54999522
| BSND | | not provided | Benign
(Aug 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465199
- GRCh38:
- Chr1:54999526
| BSND | | not provided | Likely benign
(Nov 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465200-55465201
- GRCh38:
- Chr1:54999527-54999528
| BSND | | not provided | Benign
(Sep 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465203-55465204
- GRCh38:
- Chr1:54999530-54999531
| BSND | | not provided | Likely benign
(Sep 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470678
- GRCh38:
- Chr1:55005005
| BSND | | not provided | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470688
- GRCh38:
- Chr1:55005015
| BSND | | not provided | Likely benign
(Mar 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470697
- GRCh38:
- Chr1:55005024
| BSND | | not provided | Likely benign
(Jan 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470700
- GRCh38:
- Chr1:55005027
| BSND | | not specified, Bartter disease type 4A, not provided
| Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55470703
- GRCh38:
- Chr1:55005030
| BSND | | not provided | Likely benign
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470704
- GRCh38:
- Chr1:55005031
| BSND | V63I | not provided | Uncertain significance
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470706
- GRCh38:
- Chr1:55005033
| BSND | | not specified, not provided, Bartter disease type 4A
| Benign/Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55470710
- GRCh38:
- Chr1:55005037
| BSND | A65T | not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470711
- GRCh38:
- Chr1:55005038
| BSND | A65D | Inborn genetic diseases | Uncertain significance
(Jun 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470714
- GRCh38:
- Chr1:55005041
| BSND | D66G | not specified | Uncertain significance
(Nov 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470731
- GRCh38:
- Chr1:55005058
| BSND | I72F | Bartter syndrome | Uncertain significance
(Aug 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:55470733
- GRCh38:
- Chr1:55005060
| BSND | | not provided | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470733
- GRCh38:
- Chr1:55005060
| BSND | | not provided, Bartter disease type 4A | Conflicting interpretations of pathogenicity
(Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55470737
- GRCh38:
- Chr1:55005064
| BSND | S74fs | not provided | Pathogenic
(Feb 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470742
- GRCh38:
- Chr1:55005069
| BSND | | not provided, not specified, Bartter disease type 4A
| Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55470747
- GRCh38:
- Chr1:55005074
| BSND | A77G | not provided | Uncertain significance
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470748
- GRCh38:
- Chr1:55005075
| BSND | | not provided | Likely benign
(Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470750
- GRCh38:
- Chr1:55005077
| BSND | M78T | Inborn genetic diseases | Uncertain significance
(Feb 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470754
- GRCh38:
- Chr1:55005081
| BSND | | not provided | Likely benign
(Oct 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470754
- GRCh38:
- Chr1:55005081
| BSND | | not provided | Benign
(Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470757
- GRCh38:
- Chr1:55005084
| BSND | | not provided | Likely benign
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470757
- GRCh38:
- Chr1:55005084
| BSND | | not provided | Likely benign
(Feb 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470771
- GRCh38:
- Chr1:55005098
| BSND | L85P | Hearing impairment | Uncertain significance
(Apr 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470775
- GRCh38:
- Chr1:55005102
| BSND | | not provided | Likely benign
(Jan 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470778
- GRCh38:
- Chr1:55005105
| BSND | | not provided | Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55470778
- GRCh38:
- Chr1:55005105
| BSND | | not provided | Likely benign
(Dec 3, 2020) | criteria provided, single submitter |