U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 45

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
LOC121627953, LOC121627954
+411 more
Deletion
Phelan-McDermid syndrome
GPathogenic
CHKB, LOC112695108
+404 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+401 more
Copy number loss
See cases
GPathogenic
CPT1B, CRELD2
+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
LOC126863174, LOC126863175
+129 more
Copy number loss
See cases
GUncertain significance
ACR, ADM2
+343 more
Copy number loss
See cases
GPathogenic
TRABD, TRABD-AS1
+338 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ADM2, ALG12
+333 more
Deletion
Phelan-McDermid syndrome
GPathogenic
CDPF1, CELSR1
+99 more
Copy number gain
See cases
GUncertain significance
ACR, ADM2
+315 more
Copy number loss
See cases
GPathogenic
CDPF1, CELSR1
+57 more
Copy number gain
See cases
GUncertain significance
CDPF1, CELSR1
+57 more
Copy number gain
See cases
GUncertain significance
ACR, ADM2
+295 more
Deletion
Phelan-McDermid syndrome
GPathogenic
CELSR1, CERK
+75 more
Copy number gain
See cases
GUncertain significance
LOC130067809, LOC130067810
+288 more
Copy number loss
See cases
GPathogenic
CELSR1, CERK
+54 more
Copy number gain
See cases
GLikely benign
CELSR1, CERK
+55 more
Copy number gain
See cases
GUncertain significance
LOC130067779, LOC130067780
+281 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC126863185, LOC126863186
+282 more
Deletion
Phelan-McDermid syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination