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Items: 1 to 100 of 107

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesLikely pathogenic
(May 7, 2013)
no assertion criteria provided
3.
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 casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr1:56894955-57656562
GRCh38:
Chr1:56429283-57190889
See casesUncertain significance
(Jan 16, 2012)
no assertion criteria provided
6.
GRCh37:
Chr1:57476376
GRCh38:
Chr1:57010703
DAB1G552S, G554SInborn genetic diseasesUncertain significance
(Nov 15, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr1:57476376
GRCh38:
Chr1:57010703
DAB1G552C, G554Cnot providedBenign
(Jun 16, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr1:57476377
GRCh38:
Chr1:57010704
DAB1not providedBenign/Likely benign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:57476415
GRCh38:
Chr1:57010742
DAB1S541G, S539GInborn genetic diseasesUncertain significance
(May 16, 2023)
criteria provided, single submitter
10.
GRCh37:
Chr1:57476426
GRCh38:
Chr1:57010753
DAB1F537S, F535SInborn genetic diseasesUncertain significance
(Apr 10, 2023)
criteria provided, single submitter
11.
GRCh37:
Chr1:57476868
GRCh38:
Chr1:57011195
DAB1I508V, I506VInborn genetic diseasesUncertain significance
(Jun 1, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr1:57477034
GRCh38:
Chr1:57011361
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr1:57477150
GRCh38:
Chr1:57011477
DAB1not providedBenign
(May 22, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr1:57480424
GRCh38:
Chr1:57014751
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr1:57480548
GRCh38:
Chr1:57014875
DAB1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr1:57480629
GRCh38:
Chr1:57014956
DAB1not providedLikely benign
(May 16, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr1:57480649
GRCh38:
Chr1:57014976
DAB1G449R, G451RInborn genetic diseasesUncertain significance
(Aug 17, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr1:57480690
GRCh38:
Chr1:57015017
DAB1T435I, T437Inot providedUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr1:57480714
GRCh38:
Chr1:57015041
DAB1R427H, R429HInborn genetic diseasesUncertain significance
(Jun 6, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:57480821
GRCh38:
Chr1:57015148
DAB1not providedLikely benign
(Jun 11, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr1:57480832
GRCh38:
Chr1:57015159
DAB1V388I, V390IInborn genetic diseasesUncertain significance
(Oct 12, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:57480896
GRCh38:
Chr1:57015223
DAB1not providedBenign/Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:57480925
GRCh38:
Chr1:57015252
DAB1G359R, G357RIrido-corneo-trabecular dysgenesis, Anophthalmia-microphthalmia syndromeLikely benign
(Jan 1, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr1:57480969
GRCh38:
Chr1:57015296
DAB1P342L, P344LInborn genetic diseasesUncertain significance
(Jul 25, 2023)
criteria provided, single submitter
25.
GRCh37:
Chr1:57480999
GRCh38:
Chr1:57015326
DAB1P332L, P334LInborn genetic diseasesUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr1:57481012
GRCh38:
Chr1:57015339
DAB1A330T, A328TInborn genetic diseasesUncertain significance
(Nov 8, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr1:57481018
GRCh38:
Chr1:57015345
DAB1P328S, P326SInborn genetic diseasesUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:57481076
GRCh38:
Chr1:57015403
DAB1not providedLikely benign
(Jul 2, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr1:57481284
GRCh38:
Chr1:57015611
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr1:57489137
GRCh38:
Chr1:57023464
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr1:57489224
GRCh38:
Chr1:57023551
DAB1G292D, G290DInborn genetic diseasesUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:57489225
GRCh38:
Chr1:57023552
DAB1G290S, G292SInborn genetic diseasesLikely benign
(Aug 20, 2023)
criteria provided, single submitter
33.
GRCh37:
Chr1:57489261
GRCh38:
Chr1:57023588
DAB1P280S, P278Snot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr1:57489306
GRCh38:
Chr1:57023633
DAB1A263T, A265Tnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr1:57489506
GRCh38:
Chr1:57023833
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr1:57489529
GRCh38:
Chr1:57023856
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr1:57491668
GRCh38:
Chr1:57025995
DAB1I256V, I258VInborn genetic diseasesUncertain significance
(Aug 5, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr1:57491677
GRCh38:
Chr1:57026004
DAB1P253S, P255SSpastic ataxiaLikely pathogenic
(Jul 12, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr1:57499236
GRCh38:
Chr1:57033563
DAB1not providedLikely benign
(Dec 1, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:57528523
GRCh38:
Chr1:57062850
DAB1not providedBenign
(May 20, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr1:57528562
GRCh38:
Chr1:57062889
DAB1V240LInborn genetic diseases, Spinocerebellar ataxia type 37Uncertain significance
(Sep 30, 2021)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:57528610
GRCh38:
Chr1:57062937
DAB1T224PInborn genetic diseasesUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
43.
GRCh37:
Chr1:57528772
GRCh38:
Chr1:57063099
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr1:57535053
GRCh38:
Chr1:57069380
DAB1T215AInborn genetic diseasesUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:57535061
GRCh38:
Chr1:57069388
DAB1D212GInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr1:57535075
GRCh38:
Chr1:57069402
DAB1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr1:57535081
GRCh38:
Chr1:57069408
DAB1not providedLikely benign
(Jul 10, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr1:57535198
GRCh38:
Chr1:57069525
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr1:57536582
GRCh38:
Chr1:57070909
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr1:57536941
GRCh38:
Chr1:57071268
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr1:57537062
GRCh38:
Chr1:57071389
DAB1not providedBenign
(May 12, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr1:57537239
GRCh38:
Chr1:57071566
DAB1K172EInborn genetic diseasesUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:57537282
GRCh38:
Chr1:57071609
DAB1not providedLikely benign
(Jul 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr1:57537317
GRCh38:
Chr1:57071644
DAB1not providedLikely benign
(Aug 1, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr1:57537732
GRCh38:
Chr1:57072059
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr1:57537737-57537738
GRCh38:
Chr1:57072064-57072065
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr1:57537738-57537739
GRCh38:
Chr1:57072065-57072066
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr1:57537738
GRCh38:
Chr1:57072065
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr1:57537755
GRCh38:
Chr1:57072082
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr1:57537768
GRCh38:
Chr1:57072095
DAB1not providedBenign
(May 20, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr1:57537946
GRCh38:
Chr1:57072273
DAB1not providedLikely benign
(Mar 5, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr1:57537956
GRCh38:
Chr1:57072283
DAB1DAB1-related conditionUncertain significance
(May 18, 2023)
criteria provided, single submitter
63.
GRCh37:
Chr1:57538035
GRCh38:
Chr1:57072362
DAB1I120Tnot providedLikely benign
(Mar 1, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr1:57538096
GRCh38:
Chr1:57072423
DAB1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
65.
GRCh37:
Chr1:57538097
GRCh38:
Chr1:57072424
DAB1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
66.
GRCh37:
Chr1:57602230
GRCh38:
Chr1:57136557
DAB1D98Nnot providedUncertain significance
(Feb 7, 2020)
criteria provided, single submitter
67.
GRCh37:
Chr1:57602299
GRCh38:
Chr1:57136626
DAB1A75TInborn genetic diseasesUncertain significance
(Jun 2, 2023)
criteria provided, single submitter
68.
GRCh37:
Chr1:57602311
GRCh38:
Chr1:57136638
DAB1V71Inot providedBenign
(Dec 26, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr1:57602313
GRCh38:
Chr1:57136640
DAB1G70DSpinocerebellar ataxia type 37Uncertain significance
(Jul 22, 2021)
no assertion criteria provided
70.
GRCh37:
Chr1:57602334
GRCh38:
Chr1:57136661
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr1:57602383
GRCh38:
Chr1:57136710
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr1:57611048
GRCh38:
Chr1:57145375
DAB1R41QSpinocerebellar ataxia type 37Uncertain significance
(Jun 9, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:57611176
GRCh38:
Chr1:57145503
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr1:57611195
GRCh38:
Chr1:57145522
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr1:57611330
GRCh38:
Chr1:57145657
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr1:57756628
GRCh38:
Chr1:57290956
DAB1not providedLikely benign
(Apr 5, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr1:57756660
GRCh38:
Chr1:57290988
DAB1A15TSpinocerebellar ataxia type 37Uncertain significance
(Mar 9, 2020)
criteria provided, single submitter
78.
GRCh37:
Chr1:57756980
GRCh38:
Chr1:57291308
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr1:57757017
GRCh38:
Chr1:57291345
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr1:57757041
GRCh38:
Chr1:57291369
DAB1not providedBenign
(May 11, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr1:57801783-58130775
GRCh38:
Chr1:57336111-57665103
DAB1See casesUncertain significance
(Mar 21, 2011)
no assertion criteria provided
82.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
83.
GRCh37:
Chr1:58002290-58669736
GRCh38:
Chr1:57536618-58204064
DAB1, DAB1-AS1, LOC122056887, LOC129930610, LOC129930611See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
84.
GRCh37:
Chr1:58946647
GRCh38:
Chr1:58480975
DAB1, OMA1T522Mnot providedLikely benign
(Jul 31, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr1:58946855
GRCh38:
Chr1:58481183
DAB1, OMA1not providedBenign
(Jun 22, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr1:58971748
GRCh38:
Chr1:58506076
DAB1, OMA1D450Vnot providedLikely benign
(Jan 1, 2023)
criteria provided, single submitter
87.
GRCh37:
Chr1:58996320
GRCh38:
Chr1:58530648
DAB1, OMA1D365Ynot providedLikely benign
(Jul 19, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr1:58999712
GRCh38:
Chr1:58534040
DAB1, OMA1not providedBenign
(May 30, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr1:58999853
GRCh38:
Chr1:58534181
DAB1, OMA1I294Vnot providedBenign
(Jan 23, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr1:58999978
GRCh38:
Chr1:58534306
DAB1, OMA1M252Tnot providedLikely benign
(Dec 20, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr1:59002282
GRCh38:
Chr1:58536610
DAB1, OMA1F211Cnot providedBenign
(Jul 15, 2020)
criteria provided, single submitter
92.
GRCh37:
Chr1:59002319
GRCh38:
Chr1:58536647
DAB1, OMA1not providedBenign
(Jun 10, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr1:59004762
GRCh38:
Chr1:58539090
DAB1, OMA1H69Ynot providedBenign
(Aug 18, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr1:59004766
GRCh38:
Chr1:58539094
DAB1, OMA1N67Knot providedBenign
(Jun 10, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr1:57137390-59037566
C8A, C8B, DAB1, FYB2, OMA1, PRKAA2not providedUncertain significance
(Jul 21, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr1:58079242-58254266
DAB1not specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:57710492-57762795
DAB1not specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:56897995-57698341
C8A, C8B, DAB1, FYB2, PLPP3, PRKAA2not specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr1:53675707-66644963
Chromosome 1p32-p31 deletion syndromePathogenicno assertion criteria provided
100.
GRCh37:
Chr1:58346207-59924256
DAB1, FGGY, JUN, MYSM1, OMA1, TACSTD2See casesUncertain significance
(May 3, 2019)
criteria provided, single submitter
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