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Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1330 more
Copy number gain
See cases
GPathogenic
LOC130000987, LOC130000988
+1205 more
Copy number gain
See cases
GPathogenic
LOC130001173, LOC130001174
+1068 more
Copy number gain
See cases
GPathogenic
LOC130001070, LOC130001071
+962 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
LOC130001144, LOC130001145
+745 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
EPPK1, ERICD
+499 more
Copy number gain
See cases
GPathogenic
TOP1MT, TRAPPC9
+373 more
Copy number gain
See cases
GLikely pathogenic
ADCK5, ADGRB1
+375 more
Copy number gain
See cases
GLikely pathogenic
ADCK5, ARHGAP39
+120 more
Copy number gain
See cases
GPathogenic
ADCK5, ARHGAP39
+74 more
Copy number loss
See cases
GBenign
ADCK5, ARHGAP39
+73 more
Copy number gain
See cases
GUncertain significance
ADCK5, ARHGAP39
+58 more
Copy number gain
See cases
GLikely benign
ADCK5, ARHGAP39
+47 more
Copy number gain
See cases
GUncertain significance
ARHGAP39, C8orf82
+21 more
Copy number gain
See cases
GBenign
PPP1R16A
(E3K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(A31T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(K47E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(Q61K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(G62E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(L63F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(A79T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(N129D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PPP1R16A
(A158S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(Y174C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(D184E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(R204L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(V206L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PPP1R16A
(R218Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(D224N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(H226L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(A249T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(D290N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130001407, PPP1R16A
(G306A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130001407, PPP1R16A
(E308K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130001407, PPP1R16A
(H319N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130001407, PPP1R16A
(D322N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130001407, PPP1R16A
(G343R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130001407, PPP1R16A
(R345P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130001407, PPP1R16A
(R351W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130001407, PPP1R16A
(A366T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130001407, PPP1R16A
(A369T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(S379N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(N386D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PPP1R16A
(D388A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(G392A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP1R16A
(P410L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(H411Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(V420M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(H422L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(S425F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(R427Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(R430P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(P438L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(T443I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(H445D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PPP1R16A
(H445Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(D450G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(R461C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(A482G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(Q494R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(P495L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(P513L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(P518S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(P518A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R16A
(V519M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCK5, ARHGAP39
+44 more
Copy number gain
not provided
GUncertain significance
ADCK5, ARHGAP39
+63 more
Copy number gain
not specified
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
NRBP2, NSMCE2
+173 more
Copy number gain
not provided
GPathogenic
ADCK5, ARHGAP39
+40 more
Copy number gain
not provided
GUncertain significance
ADCK5, ADGRB1
+95 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+285 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
FZD6, PCAT1
+236 more
Copy number gain
not provided
GPathogenic
ADCK5, ADCY8
+117 more
Copy number gain
not specified
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
ADCK5, BOP1
+66 more
Duplication
Holoprosencephaly sequence
GUncertain significance
HGH1, MIR1234
+44 more
Copy number gain
not provided
GUncertain significance
MIR1234, PPP1R16A
+19 more
Copy number gain
not provided
GUncertain significance
ADCK5, ARHGAP39
+69 more
Copy number gain
not provided
GLikely pathogenic
ADCK5, ADCY8
+119 more
Copy number gain
not provided
GPathogenic
ADGRB1, ADCY8
+155 more
Copy number gain
not provided
GPathogenic
ADCK5, ADCY8
+150 more
Copy number gain
not provided
GPathogenic
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
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