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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067651, LOC130067652
+1004 more
Copy number gain
See cases
GPathogenic
LOC130067596, LOC130067597
+687 more
Copy number gain
See cases
GPathogenic
A4GALT, ACR
+580 more
Copy number loss
See cases
GPathogenic
LOC126863184, LOC126863185
+541 more
Copy number gain
See cases
GPathogenic
LOC126863187, LOC126863188
+523 more
Copy number gain
See cases
GPathogenic
A4GALT, ACR
+521 more
Copy number loss
See cases
GPathogenic
A4GALT, ALG12
+428 more
Copy number loss
See cases
GPathogenic
A4GALT, ADM2
+502 more
Copy number gain
See cases
GPathogenic
LOC126863187, LOC126863188
+495 more
Copy number gain
See cases
GPathogenic
CIMAP1B, CPT1B
+492 more
Copy number gain
See cases
GPathogenic
LOC130067640, LOC130067641
+483 more
Copy number loss
See cases
GPathogenic
ADM2, ALG12
+481 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+471 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+451 more
Copy number loss
See cases
GPathogenic
PRR5-ARHGAP8, RABL2B
+443 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+441 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+434 more
Copy number loss
See cases
GPathogenic
ADM2, ALG12
+428 more
Copy number gain
See cases
GBenign
ACR, ADM2
+411 more
Deletion
Phelan-McDermid syndrome
GPathogenic
FAM118A, FBLN1
+404 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+401 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+401 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+396 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+396 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+396 more
Copy number gain
See cases
GPathogenic
LOC130067697, LOC130067698
+396 more
Copy number gain
See cases
GPathogenic
ACR, ADM2
+371 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+343 more
Copy number loss
See cases
GPathogenic
CHKB-DT, IL17REL
+338 more
Deletion
Phelan-McDermid syndrome
GPathogenic
CERK, CHKB
+333 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+315 more
Copy number loss
See cases
GPathogenic
CERK, CHKB
+295 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC130067809, LOC130067810
+288 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+281 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+282 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+260 more
Copy number loss
See cases
GPathogenic
LOC130067846, LOC130067847
+240 more
Copy number loss
See cases
GPathogenic
LOC126863173, LOC126863174
+235 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+230 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+228 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC130067876, LOC130067889
+226 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+221 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+221 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+221 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+211 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+210 more
Copy number loss
See cases
GPathogenic
ALG12, ARSA
+206 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+207 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+207 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+204 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+204 more
Copy number loss
See cases
GPathogenic
ALG12, BRD1
+74 more
Copy number gain
See cases
GUncertain significance
ACR, ADM2
+190 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+186 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+185 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+185 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+185 more
Copy number loss
See cases
GPathogenic
LOC121853048, LOC125446259
+184 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+185 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+178 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
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