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Items: 1 to 100 of 1510

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:
Chr1:57816246-71791607
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
5.
GRCh37:
Chr1:59285277-86564294
GRCh38:
Chr1:58819605-86098611
LOC129930848, LOC129930849, LOC129930850, LOC129930851, LOC129930852, LOC129930853, LOC129930854, LOC129930855, LOC129930856, LOC129930857, LOC129930858, LOC129930859, LOC129930860, LOC129930861, LOC129930862, LOC129930863, LOC129930864, LOC129930865, LOC129930866, LOC129930867, LOC129930868, LOC129930869, LOC129930870, LOC129930871, LOC129930872, LOC129930873, LOC129930874, LOC129930875, LOC129930876, LOC129930877, LOC129930878, LOC129930879, LOC129930880, LOC129930881, LOC132088736, LOC132088737, LOC132088738, LOC132088739, LOC132088740, LOC132088741, LOC132088742, LOC132090664, LPAR3, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MCOLN2, MCOLN3, MGC27382, MIER1, MIGA1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4423, MIR4711, MIR4794, MIR6068, MIR7156, MSH4, NEGR1, NEGR1-IT1, NEXN, NEXN-AS1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, RPF1, SAMD13, SERBP1, SGIP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TM2D1, TNNI3K, TTLL7, TTLL7-IT1, TYW3, UBE2U, USP1, USP33, WLS, ZNHIT6, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZZZ3, ACADM, ADGRL2, ADGRL4, AK4, AK5, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ASB17, ATG4C, BCL10, BCL10-AS1, C1orf141, C1orf52, C1orf87, CACHD1, CCN1, COL24A1, CRYZ, CTBS, CTH, CYP2J2, DDAH1, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI3, DNAI4, DNAJB4, DNAJC6, DNASE2B, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, ERICH3, ERICH3-AS1, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG12-AS1, GNG5, HOOK1, HSD52, IFI44, IFI44L, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN-DT, KANK4, L1TD1, LEPR, LEPROT, LHX8, LHX8-AS1, LINC00466, LINC01358, LINC01359, LINC01360, LINC01361, LINC01362, LINC01461, LINC01555, LINC01707, LINC01712, LINC01725, LINC01739, LINC01748, LINC01758, LINC01781, LINC01788, LINC02238, LINC02567, LINC02777, LINC02791, LINC02796, LINC03102, LOC101926944, LOC101926964, LOC101927342, LOC101927434, LOC101927560, LOC105378798, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120683, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121238, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893140, LOC120893141, LOC120893142, LOC120893143, LOC120893144, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC121725034, LOC121725035, LOC121725036, LOC121725037, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094852, LOC122094853, LOC122094854, LOC122094855, LOC122094856, LOC122094857, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC126805763, LOC126805764, LOC126805765, LOC126805766, LOC126805767, LOC126805768, LOC126805769, LOC126805770, LOC126805771, LOC126805772, LOC126805773, LOC126805774, LOC128772198, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129388553, LOC129388554, LOC129388555, LOC129388556, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, LOC129930781, LOC129930782, LOC129930783, LOC129930784, LOC129930785, LOC129930786, LOC129930787, LOC129930788, LOC129930789, LOC129930790, LOC129930791, LOC129930792, LOC129930793, LOC129930794, LOC129930795, LOC129930796, LOC129930797, LOC129930798, LOC129930799, LOC129930800, LOC129930801, LOC129930802, LOC129930803, LOC129930804, LOC129930805, LOC129930806, LOC129930807, LOC129930808, LOC129930809, LOC129930810, LOC129930811, LOC129930812, LOC129930813, LOC129930814, LOC129930815, LOC129930816, LOC129930817, LOC129930818, LOC129930819, LOC129930820, LOC129930821, LOC129930822, LOC129930823, LOC129930824, LOC129930825, LOC129930826, LOC129930827, LOC129930828, LOC129930829, LOC129930830, LOC129930831, LOC129930832, LOC129930833, LOC129930834, LOC129930835, LOC129930836, LOC129930837, LOC129930838, LOC129930839, LOC129930840, LOC129930841, LOC129930842, LOC129930843, LOC129930844, LOC129930845, LOC129930846, LOC129930847
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
6.
GRCh37:
Chr1:59285277-69572791
GRCh38:
Chr1:58819605-69107108
AK4, ALG6, ANGPTL3, ATG4C, C1orf141, C1orf87, CACHD1, CYP2J2, 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-DT, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01358, LINC01359, LINC01707, LINC01739, LINC01748, LINC02777, LOC101926944, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC115801429, LOC120893140, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC128772198, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, 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, LOC132090664, MIER1, MIR101-1, MIR12132, MIR1262, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4711, MIR4794, MIR6068, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, TM2D1, UBE2U, USP1, WLS
See casesPathogenic
(Aug 18, 2010)
no assertion criteria provided
7.
GRCh37:
Chr1:60098172-77196562
GRCh38:
Chr1:59632500-76730877
LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC128772198, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, 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, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4711, MIR4794, MIR6068, MSH4, NEGR1, NEGR1-IT1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PTGER3, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, ST6GALNAC3, TM2D1, TNNI3K, TYW3, UBE2U, USP1, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ACADM, AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ASB17, ATG4C, C1orf141, C1orf87, CACHD1, CRYZ, CTH, CYP2J2, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, ERICH3, ERICH3-AS1, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, GADD45A, GNG12, GNG12-AS1, HOOK1, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LHX8, LHX8-AS1, LINC00466, LINC01359, LINC01360, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02238, LINC02791, LINC02796, LINC03102, LOC101926944, LOC101926964, LOC101927342, LOC105378798, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC111501769, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893141, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094853, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr1:60226528-72043735
GRCh38:
Chr1:59760856-71578052
AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ATG4C, C1orf141, C1orf87, CACHD1, CTH, CYP2J2, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, FGGY, FOXD3, FOXD3-AS1, GADD45A, GNG12, GNG12-AS1, HOOK1, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01359, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02791, LINC03102, LOC101926944, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC111501769, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC115801429, LOC115801430, LOC120893141, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC128772198, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, 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, LRRC40, LRRC7, LRRC7-AS1, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4794, MIR6068, NEGR1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PTGER3, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TM2D1, UBE2U, USP1, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT
See casesPathogenic
(Apr 23, 2013)
no assertion criteria provided
9.
GRCh37:
Chr1:60939472-71410638
GRCh38:
Chr1:60473800-70944955
AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ATG4C, C1orf141, CACHD1, CTH, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, FOXD3, FOXD3-AS1, GADD45A, GNG12, GNG12-AS1, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01359, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02791, LINC03102, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC111501769, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC115801429, LOC115801430, LOC120893141, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC128772198, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, 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, LRRC40, LRRC7, LRRC7-AS1, MIER1, MIR101-1, MIR12132, MIR1262, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4794, MIR6068, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PTGER3, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TM2D1, UBE2U, USP1, WLS
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh38:
Chr1:61077177-62865614
Brain malformations with or without urinary tract defectsPathogenic
(Aug 24, 2023)
criteria provided, single submitter
11.
GRCh37:
Chr1:61723918-63655037
GRCh38:
Chr1:61258246-63189366
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
12.
GRCh37:
Chr1:62388322-66911440
GRCh38:
Chr1:61922650-66445757
AK4, ALG6, ANGPTL3, ATG4C, CACHD1, DLEU2L, DNAJC6, DOCK7, DOCK7-DT, EFCAB7, FOXD3, FOXD3-AS1, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01359, LINC01739, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC121725026, LOC121725027, LOC121725028, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC128772198, LOC129388542, LOC129388543, 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, MIR101-1, MIR3116-1, MIR3116-2, MIR3671, MIR4794, MIR6068, PATJ, PDE4B, PDE4B-AS1, PGM1, RAVER2, ROR1, ROR1-AS1, UBE2U, USP1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr1:62920930
GRCh38:
Chr1:62455259
DOCK7not providedLikely benign
(Sep 11, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr1:62920989
GRCh38:
Chr1:62455318
DOCK7not providedLikely benign
(Jun 12, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr1:62921086
GRCh38:
Chr1:62455415
DOCK7Developmental and epileptic encephalopathy, 23Uncertain significance
(Oct 29, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr1:62921096
GRCh38:
Chr1:62455425
DOCK7M2096V, M2098V, M2127V, M2138V, M2107V, M2129VDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Jun 16, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr1:62921101
GRCh38:
Chr1:62455430
DOCK7R2094H, R2096H, R2105H, R2125H, R2127H, R2136Hnot provided, Developmental and epileptic encephalopathy, 23, Inborn genetic diseases
Uncertain significance
(Mar 29, 2023)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:62921107
GRCh38:
Chr1:62455436
DOCK7S2094N, S2125N, S2134N, S2123N, S2092N, S2103NDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Sep 7, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:62921113
GRCh38:
Chr1:62455442
DOCK7R2092Q, R2101Q, R2121Q, R2090Q, R2123Q, R2132QDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:62921114
GRCh38:
Chr1:62455443
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Feb 10, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:62921119
GRCh38:
Chr1:62455448
DOCK7F2090C, F2121C, F2088C, F2099C, F2119C, F2130CDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Mar 22, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:62921123
GRCh38:
Chr1:62455452
DOCK7S2087P, S2089P, S2098P, S2118P, S2120P, S2129PDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Nov 1, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr1:62921127
GRCh38:
Chr1:62455456
DOCK7Developmental and epileptic encephalopathy, 23Uncertain significance
(Sep 30, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr1:62921129-62921130
GRCh38:
Chr1:62455458-62455459
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Jul 26, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr1:62921132-62921133
GRCh38:
Chr1:62455461-62455462
DOCK7Developmental and epileptic encephalopathy, 23, not providedBenign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:62921133
GRCh38:
Chr1:62455462
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Jun 13, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:62921137
GRCh38:
Chr1:62455466
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Jul 11, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:62921141
GRCh38:
Chr1:62455470
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(May 27, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:62921146
GRCh38:
Chr1:62455475
DOCK7Developmental and epileptic encephalopathy, 23Benign
(Oct 31, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:62921147-62921160
GRCh38:
Chr1:62455476-62455489
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Apr 21, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr1:62921422
GRCh38:
Chr1:62455751
DOCK7not providedBenign
(Mar 18, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr1:62923199
GRCh38:
Chr1:62457528
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Aug 5, 2020)
criteria provided, single submitter
33.
GRCh37:
Chr1:62923209
GRCh38:
Chr1:62457538
DOCK7R2085K, R2096K, R2116K, R2118K, R2127K, R2087KDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:62923214
GRCh38:
Chr1:62457543
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Feb 1, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr1:62923221
GRCh38:
Chr1:62457550
DOCK7V2083A, V2123A, V2092A, V2112A, V2114A, V2081ADevelopmental and epileptic encephalopathy, 23Uncertain significance
(Jun 8, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr1:62923259
GRCh38:
Chr1:62457588
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Jan 24, 2020)
criteria provided, single submitter
37.
GRCh37:
Chr1:62923262
GRCh38:
Chr1:62457591
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Jul 28, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr1:62923265
GRCh38:
Chr1:62457594
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Oct 10, 2020)
criteria provided, single submitter
39.
GRCh37:
Chr1:62923273
GRCh38:
Chr1:62457602
DOCK7Q2097E, Q2066E, Q2106E, Q2064E, Q2075E, Q2095EDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Mar 19, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:62923290
GRCh38:
Chr1:62457619
DOCK7R2091L, R2069L, R2058L, R2060L, R2089L, R2100LDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr1:62923291
GRCh38:
Chr1:62457620
DOCK7R2058C, R2060C, R2069C, R2089C, R2091C, R2100CDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Aug 31, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr1:62923298
GRCh38:
Chr1:62457627
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Feb 8, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr1:62923304
GRCh38:
Chr1:62457633
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Apr 9, 2020)
criteria provided, single submitter
44.
GRCh37:
Chr1:62923324
GRCh38:
Chr1:62457653
DOCK7E2078*, E2058*, E2047*, E2089*, E2049*, E2080*Developmental and epileptic encephalopathy, 23Pathogenic
(Aug 31, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr1:62923333
GRCh38:
Chr1:62457662
DOCK7D2046N, D2077N, D2044N, D2055N, D2086N, D2075NDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr1:62923334
GRCh38:
Chr1:62457663
DOCK7Developmental and epileptic encephalopathy, 23, not providedBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:62923335
GRCh38:
Chr1:62457664
DOCK7P2054L, P2074L, P2085L, P2043L, P2076L, P2045LDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Jul 5, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr1:62923341
GRCh38:
Chr1:62457670
DOCK7I2083T, I2052T, I2074T, I2043T, I2072T, I2041TDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr1:62923342
GRCh38:
Chr1:62457671
DOCK7I2083V, I2052V, I2074V, I2041V, I2072V, I2043VDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Dec 6, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr1:62923346
GRCh38:
Chr1:62457675
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Oct 24, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:62923352
GRCh38:
Chr1:62457681
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Jan 14, 2019)
criteria provided, single submitter
52.
GRCh37:
Chr1:62923373
GRCh38:
Chr1:62457702
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Mar 6, 2020)
criteria provided, single submitter
53.
GRCh37:
Chr1:62923374
GRCh38:
Chr1:62457703
DOCK7C2061Y, C2030Y, C2072Y, C2041Y, C2063Y, C2032YDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr1:62923381
GRCh38:
Chr1:62457710
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Oct 17, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr1:62939466
GRCh38:
Chr1:62473795
DOCK7not providedBenign
(Mar 14, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr1:62939634
GRCh38:
Chr1:62473963
DOCK7Developmental and epileptic encephalopathy, 23, not providedBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:62939644
GRCh38:
Chr1:62473973
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Oct 13, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr1:62939648
GRCh38:
Chr1:62473977
DOCK7Developmental and epileptic encephalopathy, 23Uncertain significance
(Feb 4, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr1:62939681
GRCh38:
Chr1:62474010
DOCK7R2020*, R2053*, R2051*, R2062*, R2031*, R2022*Developmental and epileptic encephalopathy, 23Pathogenic
(Jul 8, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:62939683
GRCh38:
Chr1:62474012
DOCK7L2050Q, L2052Q, L2030Q, L2019Q, L2021Q, L2061QInborn genetic diseasesUncertain significance
(Apr 1, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr1:62939700
GRCh38:
Chr1:62474029
DOCK7F2024L, F2044L, F2055L, F2046L, F2013L, F2015LDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr1:62939708
GRCh38:
Chr1:62474037
DOCK7K2013E, K2042E, K2053E, K2022E, K2044E, K2011EDevelopmental and epileptic encephalopathy, 23, Inborn genetic diseasesUncertain significance
(Mar 6, 2023)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:62939711
GRCh38:
Chr1:62474040
DOCK7P2010S, P2021S, P2041S, P2012S, P2043S, P2052SDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr1:62939717
GRCh38:
Chr1:62474046
DOCK7S2039G, S2019G, S2008G, S2010G, S2041G, S2050GDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Aug 2, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr1:62939719
GRCh38:
Chr1:62474048
DOCK7P2009H, P2038H, P2007H, P2018H, P2040H, P2049HDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Mar 11, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr1:62939720
GRCh38:
Chr1:62474049
DOCK7P2018S, P2007S, P2009S, P2049S, P2038S, P2040SDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Jun 29, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr1:62939726
GRCh38:
Chr1:62474055
DOCK7E2005Q, E2007Q, E2016Q, E2038Q, E2036Q, E2047QDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Aug 12, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr1:62939730
GRCh38:
Chr1:62474059
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Nov 6, 2019)
criteria provided, single submitter
69.
GRCh37:
Chr1:62939753
GRCh38:
Chr1:62474082
DOCK7L2029V, L1998V, L2027V, L2038V, L1996V, L2007Vnot specified, Developmental and epileptic encephalopathy, 23Uncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:62939757
GRCh38:
Chr1:62474086
DOCK7not providedLikely benign
(Feb 1, 2023)
criteria provided, single submitter
71.
GRCh37:
Chr1:62939763
GRCh38:
Chr1:62474092
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Dec 26, 2019)
criteria provided, single submitter
72.
GRCh37:
Chr1:62939763
GRCh38:
Chr1:62474092
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Jul 23, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:62939768
GRCh38:
Chr1:62474097
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Mar 15, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:62939769-62939771
GRCh38:
Chr1:62474098-62474100
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Jan 6, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr1:62939776
GRCh38:
Chr1:62474105
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Feb 22, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr1:62939778
GRCh38:
Chr1:62474107
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Aug 5, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr1:62939922
GRCh38:
Chr1:62474251
DOCK7not providedLikely benign
(Mar 23, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr1:62940071
GRCh38:
Chr1:62474400
DOCK7not providedLikely benign
(Apr 8, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr1:62940097
GRCh38:
Chr1:62474426
DOCK7not providedBenign
(Mar 18, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr1:62940868
GRCh38:
Chr1:62475197
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Jul 15, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr1:62940872
GRCh38:
Chr1:62475201
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Jul 19, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr1:62940874
GRCh38:
Chr1:62475203
DOCK7Developmental and epileptic encephalopathy, 23Uncertain significance
(Oct 5, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr1:62940882-62940883
GRCh38:
Chr1:62475211-62475212
DOCK7N1992fs, N1994fs, N2025fs, N2003fs, N2023fs, N2034fsDevelopmental and epileptic encephalopathy, 23Pathogenic
(May 17, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr1:62940888
GRCh38:
Chr1:62475217
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Nov 9, 2020)
criteria provided, single submitter
85.
GRCh37:
Chr1:62940904
GRCh38:
Chr1:62475233
DOCK7G1985fs, G1987fs, G1996fs, G2016fs, G2018fs, G2027fsDOCK7-related conditionLikely pathogenic
(Apr 7, 2023)
criteria provided, single submitter
86.
GRCh37:
Chr1:62940926
GRCh38:
Chr1:62475255
DOCK7M1980V, M2009V, M2011V, M2020V, M1978V, M1989VDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr1:62940928
GRCh38:
Chr1:62475257
DOCK7K1977R, K2019R, K2008R, K2010R, K1979R, K1988RDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr1:62940939
GRCh38:
Chr1:62475268
DOCK7not provided, Developmental and epileptic encephalopathy, 23Benign/Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:62940948
GRCh38:
Chr1:62475277
DOCK7H2001Q, H1972Q, H2012Q, H1970Q, H1981Q, H2003QDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr1:62940949
GRCh38:
Chr1:62475278
DOCK7H1970R, H1972R, H1981R, H2001R, H2003R, H2012RDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr1:62940966
GRCh38:
Chr1:62475295
DOCK7Developmental and epileptic encephalopathy, 23, not providedLikely benign
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:62940975
GRCh38:
Chr1:62475304
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Sep 1, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr1:62940983
GRCh38:
Chr1:62475312
DOCK7Q1990E, Q2001E, Q1961E, Q1992E, Q1959E, Q1970EDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Jul 12, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr1:62940987
GRCh38:
Chr1:62475316
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Jun 27, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr1:62941001
GRCh38:
Chr1:62475330
DOCK7V1995L, V1953L, V1984L, V1955L, V1964L, V1986LDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr1:62941007
GRCh38:
Chr1:62475336
DOCK7I1951V, I1984V, I1962V, I1982V, I1993V, I1953VDevelopmental and epileptic encephalopathy, 23Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:62941017
GRCh38:
Chr1:62475346
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Sep 1, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:62941020
GRCh38:
Chr1:62475349
DOCK7Developmental and epileptic encephalopathy, 23Likely benign
(Mar 6, 2020)
criteria provided, single submitter
99.
GRCh37:
Chr1:62941029
GRCh38:
Chr1:62475358
DOCK7Developmental and epileptic encephalopathy, 23Benign
(Sep 13, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr1:62941169
GRCh38:
Chr1:62475498
DOCK7not providedBenign
(Mar 8, 2021)
criteria provided, single submitter
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