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Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC01708, LINC01709
+549 more
Copy number gain
See cases
GPathogenic
GBP1
(R586Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(M583T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(N574T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
Deletion
(intron variant)
Neutrophil inclusion bodies
GLikely pathogenic
GBP1
(T549N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(K544E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GBP1
(N537S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(E508G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(S498T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(I460T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(I455V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(V437I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GBP1
(G432D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(G432R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1, LOC126805784
(L410S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1, LOC126805784
(R392Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1, LOC126805784
(K391R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1, LOC126805784
(E389D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GBP1, LOC126805784
(A385V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1, LOC126805784
(R358T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1, LOC126805784
(Q337E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1, LOC126805784
(A331S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1, LOC126805784
(A303V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1, LOC126805784
(A303T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1, LOC126805784
(L296P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(P291S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(F262S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(Q249H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(R244C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(Y204H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(D199E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(P198T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(R153Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(V127M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(A117T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBP1
(V104A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(G100S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBP1
(L46P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(N24I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(A23V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GBP1
(C12Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBP1
(M11V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GBP1
(M7T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BARHL2, GBP1
+16 more
Copy number gain
not provided
GUncertain significance
GBP1, GBP2
+15 more
Copy number loss
not provided
GUncertain significance
MCOLN3, MIGA1
+97 more
Copy number loss
not specified
GPathogenic
GBP1, GBP2
+8 more
Copy number gain
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACADM, ADGRL2
+80 more
Copy number loss
See cases
GPathogenic
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