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Items: 23

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
LOC130067605, LOC130067606
+303 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
CRELD2, DENND6B
+471 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+451 more
Copy number loss
See cases
GPathogenic
DENND6B, EFCAB6
+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
ARHGAP8, KIAA0930
+39 more
Copy number gain
Anomalous pulmonary venous return
GUncertain significance
LOC121627953, LOC121627954
+411 more
Deletion
Phelan-McDermid syndrome
GPathogenic
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