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Items: 1 to 100 of 186

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
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
MAPK12
(T355M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(E347G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(T344S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(V323I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(D317A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(Y316C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(D319Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(E308G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(H305Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(E312K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(P299L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(R289Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(Y261C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(D246N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(F239S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(T194M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(R192H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MAPK12
(R182Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(R189Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(R179W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(A175V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(D171N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(G147S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(G140R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(R129W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(D104E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(R82H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(E74D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(K69M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK12
(P61L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MAPK12
(R60P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130067831, MAPK12
(G50D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130067831, MAPK12
(V33M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130067831, MAPK12
(P32L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130067831, MAPK12
(V26M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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