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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
ACR, ADM2
+471 more
Deletion
Phelan-McDermid syndrome
GPathogenic
BIK
(L12F)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BIK
(P25L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BIK
(V29F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIK
(M42L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIK
(M42T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIK
(A56T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIK
(P75Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIK
(T97S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIK
(D99N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIK
(D99G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BIK
(L114P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIK
(P127L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIK
(E134K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIK
(L143P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIK
(P149A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
A4GALT, ADM2
+78 more
Copy number loss
not specified
GPathogenic
A4GALT, ACO2
+106 more
Copy number gain
not specified
GPathogenic
ARFGAP3, BIK
+6 more
Copy number gain
not provided
GUncertain significance
MIOX, MPPED1
+76 more
Copy number gain
not provided
GPathogenic
ARHGAP8, ATXN10
+33 more
Copy number loss
not specified
GPathogenic
A4GALT, ACR
+82 more
Copy number loss
not specified
GPathogenic
A4GALT, ARFGAP3
+12 more
Copy number loss
not provided
GUncertain significance
BIK, EFCAB6
+6 more
Copy number gain
not provided
GUncertain significance
MIOX, PPP6R2
+96 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
A4GALT, ARFGAP3
+19 more
Deletion
Developmental delay with variable intellectual impairment and behavioral abnormalities
GPathogenic
BIK, BRD1
+94 more
Deletion
Intellectual disability
GPathogenic
WBP2NL, ARFGAP3
+21 more
Deletion
Intellectual disability
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
BIK, TSPO
+7 more
Copy number loss
not provided
GUncertain significance
A4GALT, ACO2
+126 more
Copy number gain
not provided
GPathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
A4GALT, ARFGAP3
+14 more
Copy number gain
not provided
GUncertain significance
ARHGAP8, CPT1B
+92 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
A4GALT, ACR
+83 more
Copy number loss
not provided
GPathogenic
A4GALT, ACR
+79 more
Copy number loss
not provided
GPathogenic
ACR, ADM2
+77 more
Copy number loss
not provided
GPathogenic
TSPO, MCAT
+4 more
Copy number gain
not provided
GLikely benign
A4GALT, ACR
+79 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+77 more
Copy number loss
See cases
GPathogenic
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
A4GALT, ACR
+91 more
Copy number loss
See cases
GPathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+223 more
Copy number gain
See cases
GPathogenic
ADM2, A4GALT
+128 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
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