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Links from MedGen

Items: 5

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:66057406-78014123
Deletion of long arm of chromosome 18Pathogenicno assertion criteria provided
2.
GRCh37:
Chr18:66434850-78075000
Deletion of long arm of chromosome 18Pathogenic
(Jan 31, 2023)
no assertion criteria provided
3.
GRCh37:
Chr18:61289055-78014123
Deletion of long arm of chromosome 18Pathogenicno assertion criteria provided
4.
GRCh38:
Chr18:61490305-80247612
ADNP2, ATP9B, BCL2, C18orf63, CBLN2, CCDC102B, CD226, CDH19, CDH20, CDH7, CNDP1, CNDP2, CTDP1, CTDP1-DT, CYB5A, DIPK1C, DOK6, DSEL, DSEL-AS1, FBXO15, GALR1, GTSCR1, HMSD, HSBP1L1, KCNG2, KDSR, KDSR-DT, LINC00305, LINC00683, LINC00908, LINC01029, LINC01538, LINC01541, LINC01544, LINC01879, LINC01893, LINC01896, LINC01898, LINC01899, LINC01903, LINC01909, LINC01910, LINC01912, LINC01922, LINC01924, LINC01927, LINC02582, LINC02864, LIVAR, LOC105372173, LOC105372179, LOC105372187, LOC105372228, LOC107992389, LOC108281158, LOC110120868, LOC110120915, LOC110120931, LOC110120935, LOC110120953, LOC110121312, LOC110121314, LOC110121318, LOC110121330, LOC112543430, LOC112543432, LOC112543433, LOC116276492, LOC121627834, LOC121627835, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852969, LOC121852970, LOC124904333, LOC125371435, LOC125371436, LOC125371437, LOC125371438, LOC125371439, LOC125371440, LOC125371441, LOC125371442, LOC125371443, LOC126862768, LOC126862769, LOC126862770, LOC126862771, LOC126862772, LOC126862773, LOC126862774, LOC126862775, LOC126862776, LOC126862777, LOC126862778, LOC126862779, LOC126862780, LOC126862781, LOC126862782, LOC126862783, LOC126862784, LOC126862785, LOC126862786, LOC126862787, LOC126862788, LOC126862789, LOC126862790, LOC126862791, LOC126862792, LOC126862793, LOC126862794, LOC126862795, LOC126862796, LOC126862797, LOC126862798, LOC126862799, LOC126862800, LOC126862801, LOC126862802, LOC126862803, LOC126862804, LOC126862805, LOC126862806, LOC126862807, LOC126862808, LOC126862809, LOC126862810, LOC126862811, LOC126862812, LOC126862813, LOC126862814, LOC126862815, LOC126862816, LOC126862817, LOC126862818, LOC126862819, LOC126862820, LOC126862821, LOC126862822, LOC126862823, LOC126862824, LOC126862825, LOC126862826, LOC126862827, LOC126862828, LOC126862829, LOC126862830, LOC126862831, LOC126862832, LOC126862833, LOC126862834, LOC129391004, LOC129391005, LOC129391006, LOC129391007, LOC129391008, LOC129456126, LOC130062620, LOC130062621, LOC130062622, LOC130062623, LOC130062624, LOC130062625, LOC130062626, LOC130062627, LOC130062628, LOC130062629, LOC130062630, LOC130062631, LOC130062632, LOC130062633, LOC130062634, LOC130062635, LOC130062636, LOC130062637, LOC130062638, LOC130062639, LOC130062640, LOC130062641, LOC130062642, LOC130062643, LOC130062644, LOC130062645, LOC130062646, LOC130062647, LOC130062648, LOC130062649, LOC130062650, LOC130062651, LOC130062652, LOC130062653, LOC130062654, LOC130062655, LOC130062656, LOC130062657, LOC130062658, LOC130062659, LOC130062660, LOC130062661, LOC130062662, LOC130062663, LOC130062664, LOC130062665, LOC130062666, LOC130062667, LOC130062668, LOC130062669, LOC130062670, LOC130062671, LOC130062672, LOC130062673, LOC130062674, LOC130062675, LOC130062676, LOC130062677, LOC130062678, LOC130062679, LOC130062680, LOC130062681, LOC130062682, LOC130062683, LOC130062684, LOC130062685, LOC130062686, LOC130062687, LOC130062688, LOC130062689, LOC130062690, LOC130062691, LOC130062692, LOC130062693, LOC130062694, LOC130062695, LOC130062696, LOC130062697, LOC130062698, LOC130062699, LOC130062700, LOC130062701, LOC130062702, LOC130062703, LOC130062704, LOC130062705, LOC130062706, LOC130062707, LOC130062708, LOC130062709, LOC130062710, LOC130062711, LOC130062712, LOC130062713, LOC130062714, LOC130062715, LOC130062716, LOC130062717, LOC130062718, LOC130062719, LOC130062720, LOC130062721, LOC130062722, LOC130062723, LOC130062724, LOC130062725, LOC130062726, LOC130062727, LOC130062728, LOC130062729, LOC130062730, LOC130062731, LOC130062732, LOC130062733, LOC130062734, LOC130062735, LOC130062736, LOC130062737, LOC130062738, LOC130062739, LOC130062740, LOC130062741, LOC130062742, LOC130062743, LOC130062744, LOC130062745, LOC130062746, LOC130062747, LOC130062748, LOC130062749, LOC130062750, LOC130062751, LOC130062752, LOC130062753, LOC130062754, LOC130062755, LOC130062756, LOC130062757, LOC130062758, LOC130062759, LOC130062760, LOC130062761, LOC130062762, LOC130062763, LOC130062764, LOC130062765, LOC130062766, LOC130062767, LOC130062768, LOC130062769, LOC130062770, LOC130062771, LOC130062772, LOC130062773, LOC130062774, LOC130062775, LOC130062776, LOC130062777, LOC130062778, LOC130062779, LOC130062780, LOC130062781, LOC130062782, LOC130062783, LOC130062784, LOC130062785, LOC130062786, LOC130062787, LOC130062788, LOC130062789, LOC130062790, LOC130062791, LOC130062792, LOC130062793, LOC130062794, LOC130062795, LOC130062796, LOC130062797, LOC130062798, LOC130062799, LOC130062800, LOC130062801, LOC130062802, LOC130062803, LOC130062804, LOC132090494, LOC132090495, LOC132090496, LOC132090497, LOC132090498, LOC132090499, LOC132090500, LOC132090501, LOC132090502, LOC132090503, LOC132090504, LOC132090505, LOC132090506, LOC132090507, LOC132090508, LOC132090509, LOC132090510, LOC132090511, LOC132090512, LOC132090513, LOC132090514, LOC132090515, LOC132090516, LOC132090517, LOC132090518, LOC132090519, LOC132090520, LOC132090521, LOC132090522, LOC132090523, LOC132090524, LOC132090525, LOC132090526, LOC132090527, LOC132090528, LOC132090529, LOC132090530, LOC132090899, LOC132090900, LOC132090901, LOC132211114, LOC284240, LOC339298, MBP, MIR5011, MIR548AV, NETO1, NETO1-DT, NFATC1, PARD6G, PARD6G-AS1, PHLPP1, PIGN, PTGR3, RBFA, RBFADN, RELCH, RNF152, RTTN, SALL3, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SLC66A2, SMIM21, SOCS6, TIMM21, TMX3, TNFRSF11A, TSHZ1, TXNL4A, VPS4B, ZCCHC2, ZNF236, ZNF236-DT, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT
Deletion of long arm of chromosome 18Pathogenic
(Aug 25, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr18:58024137-77996821
Deletion of long arm of chromosome 18Pathogenicno assertion criteria provided
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