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Items: 1 to 100 of 107

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
AKAP17A, ARSD
+80 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, ASMT
+32 more
Copy number loss
See cases
GPathogenic
AKAP17A, ARSD
+110 more
Copy number loss
See cases
GPathogenic
AKAP17A, ARSD
+57 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
MIR3690, MIR4770
+78 more
Copy number loss
See cases
GPathogenic
AKAP17A, AMELX
+169 more
Copy number loss
See cases
GPathogenic
AKAP17A, ARSD
+96 more
Copy number loss
See cases
GPathogenic
CNE-2, CNE-3
+9 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
CNE-2, CNE-3
+15 more
Copy number loss
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
CNE-2, CNE-3
+10 more
Copy number gain
See cases
GUncertain significance
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
AKAP17A, ASMT
+27 more
Copy number loss
See cases
GPathogenic
CNE-2, CNE-3
+12 more
Copy number gain
See cases
GUncertain significance
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
AKAP17A, ARSD
+56 more
Copy number gain
See cases
GPathogenic
LOC126863224, LOC126863225
+2632 more
Copy number gain
See cases
GPathogenic
LOC121627971, LOC121627972
+2633 more
Copy number loss
See cases
GPathogenic
AKAP17A, ARSD
+67 more
Copy number gain
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
AKAP17A, ARSD
+80 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
CNE-2, CNE-3
+7 more
Copy number gain
See cases
GBenign
CNE-2, CNE-3
+15 more
Copy number gain
See cases
GUncertain significance
CNE-2, CNE-3
+16 more
Copy number loss
See cases
GPathogenic
CNE-3, CNE-5
+3 more
Copy number gain
See cases
GBenign
LINC00685, LOC101929148
+160 more
Duplication
Autism
GLikely pathogenic
CNE-2, CNE-3
+16 more
Copy number loss
See cases
GPathogenic
AKAP17A, AMELY
+88 more
Copy number loss
See cases
GPathogenic
CNE-2, CNE-3
+19 more
Copy number loss
See cases
GPathogenic
CNE-2, CNE-3
+16 more
Copy number loss
See cases
GPathogenic
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