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Items: 1 to 100 of 234

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, 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
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
ACR, ADM2
+315 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+295 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC130067809, LOC130067810
+288 more
Copy number loss
See cases
GPathogenic
LOC130067779, LOC130067780
+281 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC126863185, LOC126863186
+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
LOC126863188, LOC129391286
+228 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+226 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC130067774, LOC130067775
+221 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+221 more
Copy number loss
See cases
GPathogenic
LOC130067781, LOC130067782
+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
ACR, ADM2
+206 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC126863183, LOC126863184
+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
DENND6B, HDAC10
+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
ACR, LOC130067783
+166 more
Duplication
Chromosome 22q13 duplication syndrome
GPathogenic
LOC130067853, LOC130067854
+117 more
Duplication
not provided
GUncertain significance
ADM2, ARSA
+123 more
Copy number gain
See cases
GUncertain significance
ACR, ADM2
+124 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+84 more
Copy number gain
See cases
GBenign
ADM2, CHKB
+52 more
Copy number gain
See cases
GUncertain significance
ADM2, CHKB
+52 more
Copy number gain
See cases
GUncertain significance
ACR, ADM2
+55 more
Copy number loss
See cases
GPathogenic
ACR, ARSA
+23 more
Copy number gain
See cases
GUncertain significance
CHKB-CPT1B, CPT1B
(S738T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(S738R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CHKB-CPT1B, CPT1B
(A736V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(D763G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(R749C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(T711M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(R661H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(Q657fs +1 more)
Deletion
(frameshift variant +1 more)
CPT1B-related disorder
GUncertain significance
CHKB-CPT1B, CPT1B
(Q688H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
Single nucleotide variant
(intron variant)
CPT1B-related disorder
GLikely benign
CHKB-CPT1B, CPT1B
(S670N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(V669L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(G616R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(M614V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(R611H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
Single nucleotide variant
(intron variant)
not provided
GBenign
CHKB-CPT1B, CPT1B
(S623F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(E621K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(R572H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(R564P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(R582K +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CHKB-CPT1B, CPT1B
(K527N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(L558V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(C514G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(V536M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(Y464H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(W451* +1 more)
Single nucleotide variant
(nonsense +1 more)
CPT1B-related disorder
GUncertain significance
CHKB-CPT1B, CPT1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CHKB-CPT1B, CPT1B
(L425V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHKB-CPT1B, CPT1B
(F423L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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