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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ZBTB9
(E26K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(E36A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(K46R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(S89T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(D113V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(D132N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(A184V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(G198A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(L207V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(A229V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(F244C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(E271K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(P275R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(F283C)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZBTB9
(F290C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(E295A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(G333R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB9
(A363V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYNGAP1, ZBTB9
Deletion
Intellectual disability, autosomal dominant 5
GUncertain significance
ZBTB9, BAK1
+3 more
Deletion
Intellectual disability, autosomal dominant 5
GPathogenic
ARMC12, BRPF3
+94 more
Duplication
not provided
GUncertain significance
ABHD16A, AGER
+172 more
Duplication
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
B3GALT4, BAK1
+23 more
Copy number gain
not specified
GUncertain significance
BAK1, CUTA
+5 more
Duplication
Intellectual disability, autosomal dominant 5
GUncertain significance
ABHD16A, AGER
+117 more
Copy number gain
not provided
GLikely pathogenic
SYNGAP1, ZBTB9
Copy number gain
not provided
GUncertain significance
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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