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Items: 1 to 100 of 452

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARMCX3, CT47A11
+2631 more
Duplication
Autism
+1 more
GPathogenic
HMGN5, HNRNPH2
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068194, LOC130068195
+2632 more
Copy number loss
See cases
GPathogenic
LOC126863191, LOC126863192
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068432, LOC130068433
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068031, LOC130068032
+2633 more
Copy number gain
See cases
GPathogenic
LOC110120594, LOC110120595
+2633 more
Copy number loss
See cases
GPathogenic
LOC130067964, LOC130067965
+2633 more
Copy number gain
See cases
GPathogenic
CT45A7, CT45A8
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
AP1S2, APEX2
+2632 more
Copy number gain
See cases
GPathogenic
TIMM8A, TIMP1
+2631 more
Copy number loss
See cases
GPathogenic
LOC119407398, LOC119407399
+2632 more
Copy number loss
See cases
GPathogenic
FAM223B, FAM226A
+2628 more
Copy number loss
See cases
GPathogenic
LOC126863207, LOC126863208
+2628 more
Copy number gain
See cases
GPathogenic
LOC130068458, LOC130068459
+2633 more
Copy number gain
See cases
GPathogenic
LOC113875011, LOC113875012
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
LOC130068362, LOC130068363
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2631 more
Copy number gain
See cases
GPathogenic
LOC130068054, LOC130068055
+2631 more
Copy number loss
See cases
GPathogenic
LOC126863302, LOC126863303
+2631 more
Copy number gain
See cases
GPathogenic
LOC119407406, LOC119407407
+2632 more
Copy number loss
See cases
GPathogenic
ACOT9, ABCB7
+2632 more
Copy number loss
See cases
GPathogenic
LOC126863301, LOC126863302
+2632 more
Copy number gain
See cases
GPathogenic
LOC126863205, LOC126863206
+2632 more
Copy number gain
See cases
GPathogenic
LOC107985687, LOC107988021
+2632 more
Copy number loss
See cases
Gconflicting data from submitters
LOC130067947, LOC130067948
+2632 more
Copy number gain
See cases
GPathogenic
CT45A3, CT45A5
+2632 more
Copy number gain
See cases
GPathogenic
CDKL5, CDR1
+2611 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2603 more
Copy number gain
See cases
GPathogenic
LOC126863296, LOC126863297
+2593 more
Copy number gain
See cases
GPathogenic
LOC130068368, LOC130068369
+2593 more
Copy number gain
See cases
GPathogenic
LOC130067891, LOC130067892
+2595 more
Copy number gain
See cases
GPathogenic
LOC130068100, LOC130068101
+2585 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2102 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2098 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1590 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1476 more
Copy number loss
See cases
GPathogenic
LOC113875008, LOC113875009
+1467 more
Copy number gain
See cases
GPathogenic
LOC130068588, LOC130068589
+1467 more
Copy number gain
See cases
GPathogenic
LOC116309158, LOC116309159
+1466 more
Copy number gain
See cases
GPathogenic
GPRASP2, GPRASP3
+1464 more
Copy number loss
See cases
GPathogenic
LOC130068848, LOC130068849
+1254 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1249 more
Copy number loss
See cases
GPathogenic
DNAAF6, DNASE1L1
+1244 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1229 more
Copy number loss
See cases
GPathogenic
LOC130068886, LOC130068887
+1230 more
Copy number loss
See cases
GPathogenic
TCP11X2, TENM1
+1225 more
Copy number loss
See cases
GPathogenic
FAM3A, FAM50A
+1206 more
Copy number loss
See cases
GPathogenic
LOC125467786, LOC125467787
+1203 more
Copy number loss
See cases
GPathogenic
LOC113875015, LOC113875016
+1197 more
Copy number loss
See cases
GPathogenic
CT45A10, CT45A2
+1193 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1181 more
Copy number loss
See cases
GPathogenic
LOC130068516, LOC130068517
+1180 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1169 more
Copy number gain
See cases
GPathogenic
ABCD1, ACSL4
+1159 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1155 more
Copy number loss
See cases
GPathogenic
LOC130068676, LOC130068677
+1152 more
Copy number loss
See cases
GPathogenic
GABRQ, GDI1
+1150 more
Copy number loss
See cases
GPathogenic
PLP1, PLS3
+1143 more
Copy number gain
See cases
GPathogenic
LOC130068811, LOC130068812
+1141 more
Copy number gain
See cases
GPathogenic
LOC130068857, LOC130068858
+1123 more
Copy number loss
See cases
GPathogenic
LOC130068686, LOC130068687
+1075 more
Copy number loss
See cases
GPathogenic
LOC130068697, LOC130068698
+1002 more
Copy number loss
See cases
GPathogenic
LOC130068869, LOC130068870
+1001 more
Copy number loss
See cases
GPathogenic
PLXNB3-AS1, PNCK
+996 more
Copy number loss
See cases
GPathogenic
ABCD1, ACTRT1
+909 more
Copy number loss
See cases
GPathogenic
ATP2B3, ATP6AP1
+831 more
Copy number gain
See cases
GPathogenic
LOC130068866, LOC130068867
+883 more
Copy number loss
See cases
GPathogenic
ABCD1, ACTRT1
+869 more
Copy number loss
See cases
GPathogenic
LOC130068664, LOC130068665
+833 more
Copy number loss
See cases
GPathogenic
LOC130068670, LOC130068671
+820 more
Copy number loss
See cases
GPathogenic
MIR2114, MIR224
+718 more
Copy number gain
See cases
GPathogenic
LOC126863326, LOC126863327
+720 more
Copy number loss
See cases
GPathogenic
LOC130068677, LOC130068678
+701 more
Copy number loss
See cases
GPathogenic
LOC130068749, LOC130068750
+698 more
Copy number loss
See cases
GPathogenic
LOC105373367, LOC105373378
+430 more
Copy number loss
See cases
GPathogenic
IKBKG, IL9R
+427 more
Copy number loss
See cases
GPathogenic
AFF2, ATP11C
+135 more
Copy number loss
See cases
GPathogenic
ABCD1, AFF2
+417 more
Copy number loss
See cases
GPathogenic
ABCD1, AFF2
+418 more
Copy number loss
See cases
GPathogenic
LOC130068795, LOC130068796
+399 more
Copy number gain
See cases
GPathogenic
SOX3, SPANXA1
+336 more
Copy number gain
See cases
GPathogenic
AVPR2, BCAP31
+393 more
Copy number gain
See cases
GPathogenic
ABCD1, AFF2
+337 more
Duplication
Syndromic X-linked intellectual disability Lubs type
GPathogenic
ABCD1, AFF2
+391 more
Copy number gain
See cases
GPathogenic
ABCD1, AFF2
+390 more
Copy number loss
See cases
GPathogenic
AFF2, CXorf51A
+57 more
Copy number loss
See cases
GPathogenic
AFF2, CXorf51A
+74 more
Copy number gain
Mucopolysaccharidosis, MPS-II
GUncertain significance
ABCD1, AFF2
+378 more
Copy number loss
See cases
GPathogenic
ATP6AP1-DT, ABCD1
+363 more
Copy number gain
See cases
GPathogenic
LOC130068788, LOC130068789
+104 more
Copy number loss
Mucopolysaccharidosis, MPS-II
GPathogenic
AFF2, EOLA1
+52 more
Copy number loss
See cases
GPathogenic
AFF2, EOLA1
+74 more
Copy number loss
See cases
GPathogenic
AFF2, FMR1NB
+5 more
Copy number gain
See cases
GUncertain significance
AFF2, FRAXE
+1 more
Deletion
Suleiman-El-Hattab syndrome
GPathogenic
AFF2, FRAXE
Microsatellite
(5 prime UTR variant)
not provided
GLikely benign
AFF2, FRAXE
Microsatellite
(5 prime UTR variant)
not specified
GUncertain significance
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