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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
ABRACL, AHI1
+260 more
Deletion
Autoinflammatory syndrome, familial, Behcet-like
GPathogenic
LOC129389692, LOC129389693
+614 more
Copy number gain
See cases
GPathogenic
HEBP2, LOC121132708
+14 more
Copy number loss
See cases
GUncertain significance
HEBP2
(P7L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(A15T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(K26M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(G32R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(H42R +1 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
HEBP2
(S61I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HEBP2
(M96V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HEBP2
(A98V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HEBP2
(V100M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HEBP2
(T104A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(I105V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(T106I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(I129T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(E134Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(R151W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(D143N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
HEBP2
(G178D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(S192G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(N198K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HEBP2
(E203D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABRACL, ADAT2
+69 more
Copy number gain
not specified
GPathogenic
ABRACL, ADAT2
+155 more
Copy number gain
not specified
GPathogenic
ARFGEF3, HEBP2
+1 more
Copy number gain
not specified
GUncertain significance
MYB, NHSL1
+32 more
Copy number loss
not provided
GPathogenic
ARFGEF3, HEBP2
+2 more
Copy number gain
not provided
GUncertain significance
ABRACL, ARFGEF3
+23 more
Copy number loss
not provided
Gnot provided
SLC35D3, IFNGR1
+32 more
Copy number loss
not provided
GPathogenic
ABRACL, ADAT2
+49 more
Copy number loss
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ABRACL, ADAT2
+41 more
Copy number loss
See cases
GPathogenic
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