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Items: 1 to 100 of 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSF, CFAP47
+2632 more
Duplication
Autism
+1 more
GPathogenic
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
APOO, APOOL
+2634 more
Copy number gain
See cases
GPathogenic
LOC130068308, LOC130068309
+2634 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number gain
See cases
GPathogenic
LOC126863325, LOC126863326
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068075, LOC130068076
+2633 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
VAMP7, VBP1
+2632 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number loss
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
LOC126863224, LOC126863225
+2632 more
Copy number gain
See cases
GPathogenic
LOC121627971, LOC121627972
+2633 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
ABCB7, ABCD1
+2633 more
Copy number gain
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
CNKSR2, COL4A5
+2604 more
Copy number gain
See cases
GPathogenic
LOC130068417, LOC130068418
+2599 more
Copy number gain
Klinefelter syndrome
GPathogenic
LOC130068242, LOC130068243
+2103 more
Copy number loss
See cases
GPathogenic
LOC126863280, LOC126863281
+2099 more
Copy number loss
See cases
GPathogenic
P2RY10, P2RY4
+1590 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1476 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1467 more
Copy number gain
See cases
GPathogenic
LOC130068612, LOC130068613
+1467 more
Copy number gain
See cases
GPathogenic
LOC126863288, LOC126863289
+1466 more
Copy number gain
See cases
GPathogenic
LOC130068438, LOC130068439
+1464 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1254 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1249 more
Copy number loss
See cases
GPathogenic
LOC130068496, LOC130068497
+1244 more
Copy number loss
See cases
GPathogenic
MCTS1, MECP2
+1229 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1230 more
Copy number loss
See cases
GPathogenic
LOC126863325, LOC126863326
+1225 more
Copy number loss
See cases
GPathogenic
LOC130068537, LOC130068538
+1206 more
Copy number loss
See cases
GPathogenic
LOC125467786, LOC125467787
+1203 more
Copy number loss
See cases
GPathogenic
LAMP2, LDOC1
+1197 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1193 more
Copy number loss
See cases
GPathogenic
LOC130068661, LOC130068662
+1181 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1180 more
Copy number loss
See cases
GPathogenic
LOC130068480, LOC130068481
+1169 more
Copy number gain
See cases
GPathogenic
LOC101927830, LOC101928335
+1159 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1155 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1152 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1150 more
Copy number loss
See cases
GPathogenic
LOC126863349, LOC129391309
+1143 more
Copy number gain
See cases
GPathogenic
LOC121627985, LOC121627986
+1141 more
Copy number gain
See cases
GPathogenic
MAGEA8-AS1, MAGEA9
+1075 more
Copy number loss
See cases
GPathogenic
LOC130068847, LOC130068848
+1002 more
Copy number loss
See cases
GPathogenic
LOC130068862, LOC130068863
+1001 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+996 more
Copy number loss
See cases
GPathogenic
ABCD1, ACTRT1
+909 more
Copy number loss
See cases
GPathogenic
ABCD1, ACTRT1
+883 more
Copy number loss
See cases
GPathogenic
ABCD1, ACTRT1
+869 more
Copy number loss
See cases
GPathogenic
ABCD1, ACTRT1
+833 more
Copy number loss
See cases
GPathogenic
MAGEA10, MAGEA11
+820 more
Copy number loss
See cases
GPathogenic
EOLA2, EOLA2-DT
+720 more
Copy number loss
See cases
GPathogenic
ABCD1, ACTRT1
+701 more
Copy number loss
See cases
GPathogenic
ABCD1, ADGRG4
+698 more
Copy number loss
See cases
GPathogenic
ABCD1, AFF2
+430 more
Copy number loss
See cases
GPathogenic
ABCD1, AFF2
+427 more
Copy number loss
See cases
GPathogenic
CNGA2, CSAG1
+417 more
Copy number loss
See cases
GPathogenic
ABCD1, AFF2
+418 more
Copy number loss
See cases
GPathogenic
ABCD1, AFF2
+390 more
Copy number loss
See cases
GPathogenic
ABCD1, AFF2
+378 more
Copy number loss
See cases
GPathogenic
LOC108281126, LOC110121199
+289 more
Copy number gain
See cases
GPathogenic
ABCD1, ARHGAP4
+288 more
Copy number gain
See cases
GPathogenic
ABCD1, ARHGAP4
+212 more
Copy number gain
See cases
GPathogenic
HCFC1-AS1, IDH3G
+200 more
Deletion
Ectodermal dysplasia and immunodeficiency 1
+5 more
GPathogenic
BRCC3, CLIC2
+64 more
Deletion
not provided
GPathogenic
BRCC3, CLIC2
+58 more
Copy number loss
See cases
GPathogenic
BRCC3, CLIC2
+44 more
Copy number gain
See cases
GUncertain significance
F8A2, F8A3
+15 more
Copy number gain
See cases
GUncertain significance
F8A2, F8A3
+16 more
Copy number gain
See cases
GLikely benign
F8A3, H2AB3
+11 more
Copy number gain
See cases
GUncertain significance
LOC107522039, LOC107838685
+4 more
Copy number loss
See cases
GUncertain significance
IL9R, LOC107522039
+5 more
Copy number loss
See cases
GPathogenic
LOC107522039, LOC107838685
+2 more
Copy number loss
See cases
GLikely benign
LOC107522039, LOC107838685
+2 more
Copy number loss
See cases
GUncertain significance
IL9R, LOC107522039
+4 more
Copy number loss
See cases
GPathogenic
IL9R, LOC107522039
+4 more
Copy number gain
See cases
GUncertain significance
LOC107522039, LOC107838685
+2 more
Copy number loss
See cases
GBenign
LOC107522039, LOC107838685
+2 more
Copy number gain
See cases
GUncertain significance
IL9R, LOC107522039
+3 more
Copy number loss
See cases
GLikely benign
LOC107522039, LOC107838685
+2 more
Copy number loss
See cases
GBenign
IL9R, SPRY3
+1 more
Copy number loss
See cases
GLikely benign
SPRY3, VAMP7
Copy number gain
See cases
GUncertain significance
IL9R, VAMP7
Copy number loss
See cases
GBenign
VAMP7
Copy number loss
See cases
GUncertain significance
IL9R, VAMP7
Copy number loss
See cases
GLikely benign
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