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Items: 75

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
LOC130000106, LOC130000107
+937 more
Copy number gain
See cases
GPathogenic
LOC130000241, LOC130000242
+934 more
Copy number gain
See cases
GPathogenic
KAT6A-AS1, KCNU1
+929 more
Copy number gain
See cases
GPathogenic
LOC130000074, LOC130000075
+929 more
Copy number gain
See cases
GPathogenic
LOC113788268, LOC113788269
+929 more
Copy number gain
See cases
GPathogenic
LOC130000303, LOC130000304
+922 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000309, LOC130000310
+900 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC130000135, LOC130000136
+593 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+419 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+276 more
Copy number loss
See cases
GPathogenic
ADAM18, ADAM2
+543 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+180 more
Copy number gain
See cases
GPathogenic
ADAM2, ANK1
+184 more
Copy number gain
See cases
GPathogenic
LOC130000285, LOC130000286
+122 more
Copy number gain
See cases
GPathogenic
ANK1, AP3M2
+121 more
Copy number gain
See cases
GPathogenic
DKK4, FNTA
+86 more
Copy number gain
See cases
GPathogenic
AP3M2
(V48A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(Y55H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(P76A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(F78C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(G154S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(R168Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(T199I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(S221C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(N224D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(E243Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(I247M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(R258C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(I272V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(R283Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(R290C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(Q299H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(I305T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(T329A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(T329R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP3M2
(S353N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AP3M2
(V389M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANK1, AP3M2
+7 more
Duplication
not provided
GUncertain significance
ANK1, AP3M2
+16 more
Deletion
not provided
GPathogenic
ADAM18, ADAM2
+150 more
Copy number gain
not specified
GPathogenic
ADAM18, ADAM2
+44 more
Copy number gain
not specified
GUncertain significance
ADAM18, ADAM2
+44 more
Copy number gain
not specified
GUncertain significance
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
ADAM18, ADAM2
+176 more
Copy number gain
not provided
GPathogenic
ADAM18, ADAM2
+180 more
Duplication
not provided
GPathogenic
NKX6-3, PPDPFL
+64 more
Copy number gain
See cases
GPathogenic
ANK1, AP3M2
+16 more
Duplication
Torsion dystonia 6
GUncertain significance
ANK1, AP3M2
+11 more
Duplication
Severe combined immunodeficiency due to IKK2 deficiency
GUncertain significance
CDCA2, CLDN23
+250 more
Complex
See cases
GPathogenic
ADAMDEC1, ADGRA2
+251 more
Complex
8p inverted duplication/deletion syndrome
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
AP3M2, IKBKB
+2 more
Duplication
Severe combined immunodeficiency due to IKK2 deficiency
GUncertain significance
SPAG11A, STMN4
+252 more
Copy number gain
Abnormal fetal cardiovascular morphology
GPathogenic
ADAM18, ADAM2
+54 more
Copy number gain
not provided
GUncertain significance
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
AP3M2, KAT6A
+1 more
Copy number loss
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
IDO1, IDO2
+78 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+186 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+180 more
Copy number gain
See cases
GPathogenic
ANK1, AP3M2
+23 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+133 more
Copy number gain
See cases
GUncertain significance
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