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Links from Gene

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OAS2
(C237Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(P678T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(T298I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(V248I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OAS2
(R65Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(M266T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OAS2
(N117D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(M702T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
LOC126861641, OAS2
(V620M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861641, OAS2
(K566E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(P516L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OAS2
(E501K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OAS2
(A441V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(I97M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(Q90E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(E427K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130008815, OAS2
(P48S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(R383L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(F118L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(A409T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(A398T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(L515F)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OAS2
(V251I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OAS2
(R428W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(N270I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(S156I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(L348P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861641, OAS2
(A576V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(W158R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(T342M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(R650C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(V413L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130008815, OAS2
(A13T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(Y63D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(H415R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(P222L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861641, OAS2
(L571P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(N416H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(C257F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(V432I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OAS2
(S513L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861641, OAS2
(W609C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130008815, OAS2
(V38M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(P155T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861641, OAS2
(Q601E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130008815, OAS2
(G56E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(E449K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(R533C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(V412I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2
(R535W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OAS2, OAS3
+3 more
Copy number gain
See cases
GUncertain significance
CFAP73, DDX54
+13 more
Copy number loss
not specified
GPathogenic
CFAP73, DDX54
+17 more
Deletion
Radial dysplasia
+1 more
GPathogenic
LOC126861641, OAS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
OAS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
OAS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130008815, OAS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
OAS2
Copy number loss
not provided
GLikely benign
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
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