| - 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:
- Chr1:56894955-57656562
- GRCh38:
- Chr1:56429283-57190889
| C8A, C8B, DAB1, FYB2, LOC101929935, LOC112590809, LOC112590810, LOC120893138, LOC122056881, LOC122056882, LOC129930606, LOC129930607, LOC129930608, LOC129930609, LOC132088734, LOC132088735, PLPP3, PRKAA2 | | See cases | Uncertain significance (Jan 16, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:57476376
- GRCh38:
- Chr1:57010703
| DAB1 | G552S, G554S | Inborn genetic diseases | Uncertain significance (Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57476376
- GRCh38:
- Chr1:57010703
| DAB1 | G552C, G554C | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57476377
- GRCh38:
- Chr1:57010704
| DAB1 | | not provided | Benign/Likely benign (Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:57476415
- GRCh38:
- Chr1:57010742
| DAB1 | S541G, S539G | Inborn genetic diseases | Uncertain significance (May 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57476426
- GRCh38:
- Chr1:57010753
| DAB1 | F537S, F535S | Inborn genetic diseases | Uncertain significance (Apr 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57476868
- GRCh38:
- Chr1:57011195
| DAB1 | I508V, I506V | Inborn genetic diseases | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57477034
- GRCh38:
- Chr1:57011361
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57477150
- GRCh38:
- Chr1:57011477
| DAB1 | | not provided | Benign (May 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57480424
- GRCh38:
- Chr1:57014751
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57480548
- GRCh38:
- Chr1:57014875
| DAB1 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57480629
- GRCh38:
- Chr1:57014956
| DAB1 | | not provided | Likely benign (May 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57480649
- GRCh38:
- Chr1:57014976
| DAB1 | G449R, G451R | Inborn genetic diseases | Uncertain significance (Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57480690
- GRCh38:
- Chr1:57015017
| DAB1 | T435I, T437I | not provided | Uncertain significance (Nov 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57480714
- GRCh38:
- Chr1:57015041
| DAB1 | R427H, R429H | Inborn genetic diseases | Uncertain significance (Jun 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57480821
- GRCh38:
- Chr1:57015148
| DAB1 | | not provided | Likely benign (Jun 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57480832
- GRCh38:
- Chr1:57015159
| DAB1 | V388I, V390I | Inborn genetic diseases | Uncertain significance (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57480896
- GRCh38:
- Chr1:57015223
| DAB1 | | not provided | Benign/Likely benign (Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:57480925
- GRCh38:
- Chr1:57015252
| DAB1 | G359R, G357R | Irido-corneo-trabecular dysgenesis, Anophthalmia-microphthalmia syndrome | Likely benign (Jan 1, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57480969
- GRCh38:
- Chr1:57015296
| DAB1 | P342L, P344L | Inborn genetic diseases | Uncertain significance (Jul 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57480999
- GRCh38:
- Chr1:57015326
| DAB1 | P332L, P334L | Inborn genetic diseases | Uncertain significance (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57481012
- GRCh38:
- Chr1:57015339
| DAB1 | A330T, A328T | Inborn genetic diseases | Uncertain significance (Nov 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57481018
- GRCh38:
- Chr1:57015345
| DAB1 | P328S, P326S | Inborn genetic diseases | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57481076
- GRCh38:
- Chr1:57015403
| DAB1 | | not provided | Likely benign (Jul 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57481284
- GRCh38:
- Chr1:57015611
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57489137
- GRCh38:
- Chr1:57023464
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57489224
- GRCh38:
- Chr1:57023551
| DAB1 | G292D, G290D | Inborn genetic diseases | Uncertain significance (Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57489225
- GRCh38:
- Chr1:57023552
| DAB1 | G290S, G292S | Inborn genetic diseases | Likely benign (Aug 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57489261
- GRCh38:
- Chr1:57023588
| DAB1 | P280S, P278S | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57489306
- GRCh38:
- Chr1:57023633
| DAB1 | A263T, A265T | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57489506
- GRCh38:
- Chr1:57023833
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57489529
- GRCh38:
- Chr1:57023856
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57491668
- GRCh38:
- Chr1:57025995
| DAB1 | I256V, I258V | Inborn genetic diseases | Uncertain significance (Aug 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57491677
- GRCh38:
- Chr1:57026004
| DAB1 | P253S, P255S | Spastic ataxia | Likely pathogenic (Jul 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57499236
- GRCh38:
- Chr1:57033563
| DAB1 | | not provided | Likely benign (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57528523
- GRCh38:
- Chr1:57062850
| DAB1 | | not provided | Benign (May 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57528562
- GRCh38:
- Chr1:57062889
| DAB1 | V240L | Inborn genetic diseases, Spinocerebellar ataxia type 37 | Uncertain significance (Sep 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:57528610
- GRCh38:
- Chr1:57062937
| DAB1 | T224P | Inborn genetic diseases | Uncertain significance (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57528772
- GRCh38:
- Chr1:57063099
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57535053
- GRCh38:
- Chr1:57069380
| DAB1 | T215A | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57535061
- GRCh38:
- Chr1:57069388
| DAB1 | D212G | Inborn genetic diseases | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57535075
- GRCh38:
- Chr1:57069402
| DAB1 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57535081
- GRCh38:
- Chr1:57069408
| DAB1 | | not provided | Likely benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57535198
- GRCh38:
- Chr1:57069525
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57536582
- GRCh38:
- Chr1:57070909
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57536941
- GRCh38:
- Chr1:57071268
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537062
- GRCh38:
- Chr1:57071389
| DAB1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537239
- GRCh38:
- Chr1:57071566
| DAB1 | K172E | Inborn genetic diseases | Uncertain significance (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537282
- GRCh38:
- Chr1:57071609
| DAB1 | | not provided | Likely benign (Jul 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537317
- GRCh38:
- Chr1:57071644
| DAB1 | | not provided | Likely benign (Aug 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537732
- GRCh38:
- Chr1:57072059
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537737-57537738
- GRCh38:
- Chr1:57072064-57072065
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537738-57537739
- GRCh38:
- Chr1:57072065-57072066
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537738
- GRCh38:
- Chr1:57072065
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537755
- GRCh38:
- Chr1:57072082
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537768
- GRCh38:
- Chr1:57072095
| DAB1 | | not provided | Benign (May 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537946
- GRCh38:
- Chr1:57072273
| DAB1 | | not provided | Likely benign (Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57537956
- GRCh38:
- Chr1:57072283
| DAB1 | | DAB1-related condition | Uncertain significance (May 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57538035
- GRCh38:
- Chr1:57072362
| DAB1 | I120T | not provided | Likely benign (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57538096
- GRCh38:
- Chr1:57072423
| DAB1 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57538097
- GRCh38:
- Chr1:57072424
| DAB1 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57602230
- GRCh38:
- Chr1:57136557
| DAB1 | D98N | not provided | Uncertain significance (Feb 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57602299
- GRCh38:
- Chr1:57136626
| DAB1 | A75T | Inborn genetic diseases | Uncertain significance (Jun 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57602311
- GRCh38:
- Chr1:57136638
| DAB1 | V71I | not provided | Benign (Dec 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57602313
- GRCh38:
- Chr1:57136640
| DAB1 | G70D | Spinocerebellar ataxia type 37 | Uncertain significance (Jul 22, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:57602334
- GRCh38:
- Chr1:57136661
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57602383
- GRCh38:
- Chr1:57136710
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57611048
- GRCh38:
- Chr1:57145375
| DAB1 | R41Q | Spinocerebellar ataxia type 37 | Uncertain significance (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57611176
- GRCh38:
- Chr1:57145503
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57611195
- GRCh38:
- Chr1:57145522
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57611330
- GRCh38:
- Chr1:57145657
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57756628
- GRCh38:
- Chr1:57290956
| DAB1 | | not provided | Likely benign (Apr 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57756660
- GRCh38:
- Chr1:57290988
| DAB1 | A15T | Spinocerebellar ataxia type 37 | Uncertain significance (Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57756980
- GRCh38:
- Chr1:57291308
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57757017
- GRCh38:
- Chr1:57291345
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57757041
- GRCh38:
- Chr1:57291369
| DAB1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57801783-58130775
- GRCh38:
- Chr1:57336111-57665103
| DAB1 | | See cases | Uncertain significance (Mar 21, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:57816246-71791607
- GRCh38:
- Chr1:57350574-71325924
| AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ATG4C, C1orf141, C1orf87, CACHD1, CTH, CYP2J2, DAB1, DAB1-AS1, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, FGGY, FOXD3, FOXD3-AS1, GADD45A, GNG12, GNG12-AS1, HOOK1, HSD52, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, JUN-DT, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01358, LINC01359, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02777, LINC02791, LINC03102, LOC101926944, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC115801429, LOC115801430, LOC120893139, LOC120893140, LOC120893141, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, 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, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC128772198, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, 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, LOC132090664, LRRC40, LRRC7, LRRC7-AS1, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4711, MIR4794, MIR6068, MYSM1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PTGER3, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TACSTD2, TM2D1, UBE2U, USP1, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:58002290-58669736
- GRCh38:
- Chr1:57536618-58204064
| DAB1, DAB1-AS1, LOC122056887, LOC129930610, LOC129930611 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:58946647
- GRCh38:
- Chr1:58480975
| DAB1, OMA1 | T522M | not provided | Likely benign (Jul 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:58946855
- GRCh38:
- Chr1:58481183
| DAB1, OMA1 | | not provided | Benign (Jun 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:58971748
- GRCh38:
- Chr1:58506076
| DAB1, OMA1 | D450V | not provided | Likely benign (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:58996320
- GRCh38:
- Chr1:58530648
| DAB1, OMA1 | D365Y | not provided | Likely benign (Jul 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:58999712
- GRCh38:
- Chr1:58534040
| DAB1, OMA1 | | not provided | Benign (May 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:58999853
- GRCh38:
- Chr1:58534181
| DAB1, OMA1 | I294V | not provided | Benign (Jan 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:58999978
- GRCh38:
- Chr1:58534306
| DAB1, OMA1 | M252T | not provided | Likely benign (Dec 20, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:59002282
- GRCh38:
- Chr1:58536610
| DAB1, OMA1 | F211C | not provided | Benign (Jul 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:59002319
- GRCh38:
- Chr1:58536647
| DAB1, OMA1 | | not provided | Benign (Jun 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:59004762
- GRCh38:
- Chr1:58539090
| DAB1, OMA1 | H69Y | not provided | Benign (Aug 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:59004766
- GRCh38:
- Chr1:58539094
| DAB1, OMA1 | N67K | not provided | Benign (Jun 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57137390-59037566
| C8A, C8B, DAB1, FYB2, OMA1, PRKAA2 | | not provided | Uncertain significance (Jul 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:58079242-58254266
| DAB1 | | not specified | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57710492-57762795
| DAB1 | | not specified | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:56897995-57698341
| C8A, C8B, DAB1, FYB2, PLPP3, PRKAA2 | | not specified | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53675707-66644963
| JUN, KANK4, L1TD1, LDLRAD1, PLPP3, PRKAA2, RAVER2, MROH7, MRPL37, LEPROT, LRP8, MYSM1, NDC1, PDE4B, LRRC42, MAGOH, MIR101-1, PGM1, LEPR, ACOT11, AK4, ALG6, ANGPTL3, ATG4C, BSND, C1orf87, C8A, C8B, CACHD1, CDCP2, CIMAP2, CPT2, CYB5RL, CYP2J2, CZIB, DAB1, DHCR24, DIO1, DMRTB1, DNAJC6, DOCK7, EFCAB7, FAM151A, FGGY, FOXD3, FYB2, GLIS1, HOOK1, IFT25, ITGB3BP, JAK1, NFIA, OMA1, PARS2, PATJ, PCSK9, ROR1, SSBP3, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1 | | Chromosome 1p32-p31 deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:58346207-59924256
| DAB1, FGGY, JUN, MYSM1, OMA1, TACSTD2 | | See cases | Uncertain significance (May 3, 2019) | criteria provided, single submitter |