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Items: 1 to 100 of 363

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSF, CFAP47
+2632 more
Duplication
Autism
+1 more
GPathogenic
ACE2, ACE2-DT
+399 more
Duplication
Autism
GLikely pathogenic
ABCB7, ABCD1
+2634 more
Copy number loss
See cases
GPathogenic
LOC130067918, LOC130067919
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068528, LOC130068529
+2634 more
Copy number gain
See cases
GPathogenic
ARMCX5, ARMCX5-GPRASP2
+2634 more
Copy number loss
See cases
GPathogenic
ASMTL, ASMTL-AS1
+282 more
Copy number loss
See cases
GPathogenic
LOC130067965, LOC130067966
+920 more
Copy number loss
See cases
GPathogenic
LOC130068369, LOC130068370
+1399 more
Copy number gain
See cases
GPathogenic
LOC130067939, LOC130067940
+1014 more
Copy number loss
See cases
GPathogenic
AKAP17A, ARSD
+110 more
Copy number loss
See cases
GPathogenic
PDK3, PHEX
+530 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1025 more
Copy number gain
See cases
GPathogenic
AKAP17A, ANOS1
+122 more
Copy number loss
See cases
GPathogenic
SYP, SYP-AS1
+984 more
Copy number loss
See cases
GPathogenic
APOO, APOOL
+2634 more
Copy number gain
See cases
GPathogenic
LOC130067922, LOC130067923
+819 more
Copy number loss
See cases
GPathogenic
AKAP17A, AMELX
+169 more
Copy number loss
See cases
GPathogenic
AKAP17A, ANOS1
+157 more
Copy number loss
See cases
GPathogenic
LOC130068061, LOC130068062
+1023 more
Copy number loss
See cases
GPathogenic
LOC130068308, LOC130068309
+2634 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number gain
See cases
GPathogenic
LOC121627970, LOC121627971
+1042 more
Copy number loss
See cases
GPathogenic
AKAP17A, ARSD
+109 more
Copy number loss
See cases
GPathogenic
LOC126863325, LOC126863326
+2633 more
Copy number gain
See cases
GPathogenic
VCX3A, VCX3B
+1070 more
Copy number loss
See cases
GPathogenic
LOC130067920, LOC130067921
+1476 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1164 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+536 more
Copy number loss
See cases
GPathogenic
LOC126863242, LOC126863243
+1629 more
Copy number loss
See cases
GPathogenic
AKAP17A, ANOS1
+112 more
Copy number loss
See cases
GPathogenic
AKAP17A, ARSD
+106 more
Copy number loss
See cases
GPathogenic
LOC130068348, LOC130068349
+1164 more
Copy number loss
See cases
GPathogenic
ZNF41, ZNF630
+1009 more
Copy number loss
See cases
GPathogenic
LOC130068042, LOC130068043
+910 more
Copy number loss
See cases
GPathogenic
AKAP17A, ARSD
+110 more
Copy number loss
See cases
GPathogenic
LOC130068075, LOC130068076
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068153, LOC130068154
+1933 more
Copy number loss
See cases
GPathogenic
AKAP17A, ARSD
+106 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+1164 more
Copy number loss
See cases
GPathogenic
SYP, SYP-AS1
+1164 more
Copy number loss
See cases
GPathogenic
LOC130068278, LOC130068279
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068310, LOC130068311
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068203, LOC130068204
+1025 more
Copy number loss
See cases
GPathogenic
VAMP7, VBP1
+2632 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number loss
See cases
GPathogenic
AKAP17A, ANOS1
+122 more
Copy number loss
See cases
GPathogenic
AKAP17A, ANOS1
+145 more
Copy number loss
See cases
GPathogenic
LOC107988022, LOC107988024
+2629 more
Copy number loss
See cases
GPathogenic
LOC130067944, LOC130067945
+2629 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number loss
See cases
GPathogenic
LOC130067929, LOC130067930
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068219, LOC130068220
+2633 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
VAMP7, VBP1
+2632 more
Copy number loss
See cases
GPathogenic
AKAP17A, ARSD
+111 more
Copy number loss
See cases
GPathogenic
CLCN4, CLCN5
+1155 more
Copy number loss
See cases
GPathogenic
LOC126863224, LOC126863225
+2632 more
Copy number gain
See cases
GPathogenic
LOC121627971, LOC121627972
+2633 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+533 more
Copy number loss
See cases
GPathogenic
FANCB, FRMPD4
+529 more
Copy number loss
See cases
GPathogenic
FUNDC1, FUNDC2
+2633 more
Copy number loss
See cases
GPathogenic
LOC126863244, LOC126863245
+2633 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+1131 more
Copy number loss
See cases
GPathogenic
MAGED2, MAGED4
+1799 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+301 more
Copy number loss
See cases
GPathogenic
AKAP17A, ANOS1
+133 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+987 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
LOC130067990, LOC130067991
+1217 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1000 more
Copy number loss
See cases
GPathogenic
LOC130068098, LOC130068099
+2633 more
Copy number loss
See cases
Gconflicting data from submitters
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
LOC126863315, LOC126863316
+2633 more
Copy number gain
See cases
GPathogenic
AKAP17A, AMELX
+184 more
Copy number loss
See cases
GPathogenic
PAGE4, PAGE5
+1164 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+402 more
Copy number loss
See cases
GPathogenic
LOC125467739, LOC125467740
+1494 more
Copy number loss
See cases
GPathogenic
LOC129391299, LOC130067890
+709 more
Copy number gain
See cases
GPathogenic
LOC130068055, LOC130068056
+2612 more
Copy number loss
See cases
GPathogenic
AKAP17A, ARSD
+87 more
Copy number loss
See cases
GPathogenic
AKAP17A, ANOS1
+101 more
Copy number loss
See cases
GPathogenic
CNKSR2, COL4A5
+2604 more
Copy number gain
See cases
GPathogenic
LOC130068417, LOC130068418
+2599 more
Copy number gain
Klinefelter syndrome
GPathogenic
LOC130068152, LOC130068153
+2594 more
Copy number gain
See cases
GPathogenic
RBM10, RBM3
+1131 more
Copy number loss
See cases
GPathogenic
LINC01546, ANOS1
+108 more
Copy number loss
See cases
GPathogenic
LOC130068468, LOC130068469
+2594 more
Copy number gain
See cases
GPathogenic
ANOS1, ARSD
+81 more
Copy number loss
See cases
GPathogenic
LOC130067984, LOC130067985
+2596 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+262 more
Copy number gain
See cases
GPathogenic
AMELX, ANOS1
+182 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2586 more
Copy number gain
See cases
GPathogenic
LOC130067992, LOC130067993
+488 more
Copy number gain
See cases
GUncertain significance
AMELX, ANOS1
+105 more
Copy number gain
See cases
GLikely pathogenic
ANOS1, CLCN4
+81 more
Copy number loss
See cases
GPathogenic
LOC130067912, LOC130067913
+28 more
Deletion
X-linked ichthyosis with steryl-sulfatase deficiency
GPathogenic
LOC106029240, LOC106029241
+28 more
Deletion
Schizophrenia
GLikely pathogenic
LOC106029240, LOC113875037
+26 more
Copy number loss
See cases
GPathogenic
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