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Items: 43

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
IFNGR1, IL20RA
+72 more
Copy number gain
See cases
GLikely benign
SLC35D3
(V14A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(I16M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(S24F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(A66S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(L72R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(V122L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(A143T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(D150Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(H168R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(G185E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(T216N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC35D3
(V261L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(P279T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(E304Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(E312K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(D328E)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC35D3
(P331L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(R345W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(A356V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(P367L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(Y401S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35D3
(K403R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNGR1, IL20RA
+6 more
Duplication
not provided
GUncertain significance
AHI1, BCLAF1
+12 more
Deletion
Peroxisome biogenesis disorder 9B
GPathogenic
ABRACL, ADAT2
+69 more
Copy number gain
not specified
GPathogenic
ABRACL, ADAT2
+155 more
Copy number gain
not specified
GPathogenic
IL20RA, IFNGR1
+6 more
Deletion
Disseminated atypical mycobacterial infection
GPathogenic
MYB, NHSL1
+32 more
Copy number loss
not provided
GPathogenic
SLC35D3, IFNGR1
+3 more
Duplication
Disseminated atypical mycobacterial infection
GUncertain significance
ABRACL, ARFGEF3
+23 more
Copy number loss
not provided
Gnot provided
BCLAF1, IFNGR1
+8 more
Deletion
Immunodeficiency 27A
GPathogenic
SLC35D3, IFNGR1
+32 more
Copy number loss
not provided
GPathogenic
ABRACL, ADAT2
+49 more
Copy number loss
not provided
GPathogenic
ALDH8A1, VNN2
+37 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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